Characterization of a single mutation that results in an aspartic acid to histidine substitution and partial exon skipping in a patient with congenital contractural arachnodactyly
Maslen, C.L.; Babcock, D.; Gasner, C.; Francke, U.
American Journal of Human Genetics 61(4 Suppl): A339
1997
ISSN/ISBN: 0002-9297 Accession: 030485560
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