Homozygous Gly530Ser substitution inCOL5A1 causes mild classical Ehlers-Danlos syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference32 articles.
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5. A Point Mutation in an Intronic Branch Site Results in Aberrant Splicing of COL5A1 and in Ehlers-Danlos Syndrome Type II in Two British Families
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