(Q71787214)
Statements
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I) (English)
R J Wenstrup
G T Langland
M C Willing
V N D'Souza
1 November 1996