+ Site Statistics
References:
52,654,530
Abstracts:
29,560,856
PMIDs:
28,072,755
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays



Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays



Clinical Chemistry 50(1): 251-254



The active site topology of heterologously expressed CYP3A4 purified from an Escherichia coli expression system was examined using phenyldiazene. Incubation of CYP3A4 with phenyldiazene and subsequent oxidation yielded all four potential N-phenylprotoporphyrin IX regioisomers derived from attack on an available nitrogen atom in pyrrole rings B, A, C, or D (N(B):N(A):N(C):N(D) = 6:73:7: 13).

(PDF emailed within 0-6 h: $19.90)

Accession: 012331172

Download citation: RISBibTeXText

PMID: 14709668

DOI: 10.1373/clinchem.2003.028068


Related references

Multicenter characterization and validation of the intron-8 poly tract status in 25 Coriell Cell Repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator gene mutation assays. Clinical Chemistry 50(1): 251-254, January, 2004

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Mutation 1(5): 380-387, 1992

Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Journal of Biological Chemistry 284(44): 30024-30031, 2009

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Mutation 15(1): 121-121, 1999

Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. American Journal of Human Genetics 52(3): 609-615, 1993

Diagnostic usefulness of the polymorphism of the GT dinucleotide and the polythymidine tract in intron 8 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Annales de Genetique 38(4): 202-205, 1995

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. Human Reproduction 19(11): 2502-2508, 2004

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Journal of Molecular Diagnostics 10(5): 424-434, 2008

Genotypes of cystic fibrosis (CF) reported in the world and polymorphisms of cystic fibrosis transmembrane conductance regulator (CFTR) gene in Japanese. Nihon Rinsho. Japanese Journal of Clinical Medicine 54(2): 525-532, 1996

The cystic fibrosis mutation G551D alters the non-Michaelis-Menten behavior of the cystic fibrosis transmembrane conductance regulator (CFTR) channel and abolishes the inhibitory Genistein binding site. Journal of Biological Chemistry 277(39): 35999-36004, 2002

Dinucleotide (CA/GT) repeat polymorphism in intron 17B of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Human Genetics 88(3): 356-356, 1992

Dinucleotide ca gt repeated polymorphisms in intron 17b of the cystic fibrosis transmembrane conductance regulator cftr gene. Human Genetics 88(3): 356, 1992

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. Human Mutation 1(3): 197-203, 1992

Molecular characterization of cystic fibrosis 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator cftr coding regions and splice site junctions. Genomics 13(3): 770-776, 1992

Retrospective study of the cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Guthrie cards from a large cohort of neonatal screening for cystic fibrosis. Human Genetics 93(4): 429-434, 1994