Section 46

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Siervi, A.D.; Parera, V.E.; Varela, L.S.; Batlle, A.M.; Rossetti, M.V. 2000: A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria. Human Mutation 16(1): 96
Van der Hoek, Y.Y.; Mul-Steinbusch, M.W.; Slee, P.H. 2000: A novel mutation (1653insC) in the thyroid hormone receptor beta in a patient resistant to thyroid hormone. Human Mutation 16(4): 375
Vidal, F.; Farssac, E.; Altisent, C.; Puig, L.; Gallardo, D. 2000: A novel mutation (2409delT) in exon 14 of the factor VIIi gene causes severe haemophilia a. Human Heredity 50(4): 266-267
Tiranti, V.; Carrara, F.; Confalonieri, P.; Mora, M.; Maffei, R.M.; Lamantea, E.; Zeviani, M. 1999: A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromuscular Disorders: Nmd 9(2): 66-71
Yamamoto, T.; Nanba, E. 1999: A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease. Human Mutation 14(2): 182
Kikawa, E.; Nakazawa, M.; Chida, Y.; Shiono, T.; Tamai, M. 1994: A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP. Genomics 20(1): 137-139
Sillén, A.; Annerén, G.; Dahl, N. 1998: A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe X-linked Charcot-Marie-Tooth disease. Human Mutation Suppl 1: S8-S9
Kornfeld, S.J.; Haire, R.N.; Strong, S.J.; Tang, H.; Sung, S.S.; Fu, S.M.; Litman, G.W. 1996: A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male. Molecular Medicine 2(5): 619-623
Bellone, E.; Di Maria, E.; Soriani, S.; Varese, A.; Doria, L.L.; Ajmar, F.; Mandich, P. 1999: A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. Human Mutation 14(4): 353-354
Miyazaki, T.; Kajita, M.; Ohmori, S.; Mizutani, N.; Niwa, T.; Murata, Y.; Seo, H. 1998: A novel mutation (E358K) in the alpha-galactosidase a gene detected in a Japanese family with Fabry disease. Human Mutation Suppl 1: S139-S140
Milani, N.; Dalprá, L.; del Prete, A.; Zanini, R.; Larizza, L. 1996: A novel mutation (Gln266-->His) in the alpha 1 subunit of the inhibitory glycine-receptor gene (GLRA1) in hereditary hyperekplexia. American Journal of Human Genetics 58(2): 420-422
Ward, B.K.; Stuckey, B.G.; Gutteridge, D.H.; Laing, N.G.; Pullan, P.T.; Ratajczak, T. 1997: A novel mutation (L174R) in the Ca2+-sensing receptor gene associated with familial hypocalciuric hypercalcemia. Human Mutation 10(3): 233-235
Matsuura, T.; Tamura, T.; Chinen, Y.; Ohta, T. 2002: A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. Clinical Genetics 62(3): 255-256
Takakubo, F.; Thorburn, D.R.; Brown, R.M.; Brown, G.K.; Dahl, H.H. 1995: A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency. Human Mutation 6(3): 274-275
Wu, J.Y.; Yang, C.F.; Lee, C.C.; Chang, J.G.; Tsai, F.J. 2000: A novel mutation (Q239R) identified in a Taiwan Chinese patient with type Vi mucopolysaccharidosis (Maroteaux-Lamy syndrome). Human Mutation 15(4): 389-390
De Luca, A.; Torrente, I.; Mangino, M.; Bertini, E.; Dallapiccola, B.; Novelli, G. 1999: A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy. Human Heredity 49(1): 59-60
Beaufrère, L.; Tuffery, S.; Hamel, C.; Arnaud, B.; Demaille, J.; Claustres, M. 1996: A novel mutation (S558X) causing choroideremia. Human Mutation 8(4): 395
Choy, F.Y.; Humphries, M.L.; Ben-Yoseph, Y. 1998: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. Human Mutation 11(5): 411-412
Aguilar-Martinez, P.; Romey, M.C.; Gris, J.C.; Schved, J.F.; Demaille, J.; Claustres, M. 1994: A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient. Human Mutation 3(2): 156-158
Weinhaeusel, A.; Vierhapper, H.; Schlegl, R.; Wagner, T.; Muhr, D.; Scheuba, C.; Niederle, B.; Haas, O.A. 2000: A novel mutation E179K of the MEN1 gene predisposes for multiple endocrine neoplasia-type 1 (MEN1). Human Mutation 16(6): 533
Hagiwara, T.; Inaba, H.; Yoshida, S.; Nagaizumi, K.; Arai, M.; Hanabusa, H.; Fukutake, K. 1996: A novel mutation Gly 1672-->Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease. Thrombosis and Haemostasis 76(2): 253-257
Tsai, F.J.; Yang, C.; Wu, J.Y.; Lin, H.J.; Lee, C.C.; Tsai, C.H. 2000: A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis. Human Mutation 16(5): 449
Peters, H.; Hess, D.; Fahsold, R.; Schülke, M. 1999: A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online. Human Mutation 13(4): 337
Warner, D.R.; Gejman, P.V.; Collins, R.M.; Weinstein, L.S. 1997: A novel mutation adjacent to the switch IIi domain of G(S alpha) in a patient with pseudohypoparathyroidism. Molecular Endocrinology 11(11): 1718-1727
Takakubo, F.; Thorburn, D.R.; Dahl, H.H. 1993: A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1). Human Molecular Genetics 2(11): 1961-1962
Wong, L.J.; Wang, J.; Woo, M.; Hsu, E.; Bowman, C.M. 2000: A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family. Prenatal Diagnosis 20(10): 807-810
Gerber, S.; Perrault, I.; Hanein, S.; Shalev, S.; Zlotogora, J.; Barbet, F.; Ducroq, D.; Dufier, J.; Munnich, A.; Rozet, J.; Kaplan, J. 2002: A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. Ophthalmic Genetics 23(4): 225-235
Yang, B.Z.; Ding, J.H.; Roe, D.; Dewese, T.; Day, D.W.; Roe, C.R. 1998: A novel mutation identified in carnitine palmitoyltransferase II deficiency. Molecular Genetics and Metabolism 63(2): 110-115
Houseman, M.J.; Jackson, A.P.; Al-Gazali, L.I.; Badin, R.A.; Roberts, E.; Mueller, R.F. 2001: A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterised OTOF long isoforms. Journal of Medical Genetics 38(8): E25
Petreska, L.; Plaseska, D.; Koceva, S.; Stavljenić-Rukavina, A.; Efremov, G.D. 1996: A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. Human Mutation 7(4): 374-375
Donnelly, A.; Colley, A.; Crimmins, D.; Mulley, J. 1996: A novel mutation in exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegia. Human Mutation 8(4): 384-385
Donnelly, A.; Haan, E.; Manson, J.; Mulley, J. 1998: A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy. Mutation in brief no. 125. Online. Human Mutation 11(4): 334
Irvine, A.D.; Smith, F.J.; Shum, K.W.; Williams, H.C.; McLean, W.H. 2000: A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. Clinical and Experimental Dermatology 25(8): 648-651
Kosaki, K.; Ogata, T.; Kosaki, R.; Sato, S.; Matsuo, N. 2002: A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Ophthalmic Genetics 23(1): 43-47
Takeuchi, T.; Nakagawa, T.; Ikemoto, T.; Sasaki, M.; Makino, S.; Shimizu, A.; Ohsawa, N. 1999: A novel mutation in the FcgammaRIIIA gene (CD16) results in active natural killer cells lacking CD16. Autoimmunity 31(4): 265-271
Galligan, P.; Listwan, P.; Siller, G.M.; Rothnagel, J.A. 1998: A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. Journal of Investigative Dermatology 111(3): 524-527
Ott, S.; Patel, R.J.; Appukuttan, B.; Wang, X.; Stout, J.T. 2000: A novel mutation in the Norrie disease gene. Journal of Aapos: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus 4(2): 125-126
Renard, L.; Godfraind, C.; Boon, L.M.; Vikkula, M. 2003: A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment. Head and Neck 25(2): 146-151
Lang-Muritano, M.; Biason-Lauber, A.; Gitzelmann, C.; Belville, C.; Picard, Y.; Schoenle, E.J. 2001: A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome. European Journal of Pediatrics 160(11): 652-654
Lee, E.H.; Park, J.H.; Coe, C.J.; Hahn, S.H. 2000: A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case. Human Mutation 16(2): 180-181
Jap, T.S.; Wu, Y.C.; Jenq, S.F.; Won, G.S. 2001: A novel mutation in the calcium-sensing receptor gene in a Chinese subject with persistent hypercalcemia and hypocalciuria. Journal of Clinical Endocrinology and Metabolism 86(1): 13-15
Bauer, K.A.; George, T.M.; Enterline, D.S.; Stottmann, R.W.; Melvin, E.C.; Siegel, D.; Samal, S.; Hauser, M.A.; Klingensmith, J.; Nye, J.S.; Speer, M.C. 2002: A novel mutation in the gene encoding noggin is not causative in human neural tube defects. Journal of Neurogenetics 16(1): 65-71
Yamato, O.; Endoh, D.; Kobayashi, A.; Masuoka, Y.; Yonemura, M.; Hatakeyama, A.; Satoh, H.; Tajima, M.; Yamasaki, M.; Maede, Y. 2002: A novel mutation in the gene for canine acid beta-galactosidase that causes GM1-gangliosidosis in Shiba dogs. Journal of Inherited Metabolic Disease 25(6): 525-526
Jap, T.S.; Wu, Y.C.; Chiou, J.Y.; Kwok, C.F. 2000: A novel mutation in the hepatocyte nuclear factor-1alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan. Diabetic Medicine: a Journal of the British Diabetic Association 17(5): 390-393
Aguilar-Martinez, P.; Biron, C.; Masmejean, C.; Jeanjean, P.; Schved, J.F. 1996: A novel mutation in the iron responsive element of ferritin L-subunit gene as a cause for hereditary hyperferritinemia-cataract syndrome. Blood 88(5): 1895
Grau, U.; Klein, H.G.; Detter, C.; Mair, H.; Welz, A.; Seidel, D.; Reichart, B. 1998: A novel mutation in the neonatal region of the fibrillin (FBN)1 gene associated with a classical phenotype of Marfan syndrome (MfS). Mutations in brief no. 163. Online. Human Mutation 12(2): 137