(Q57197822)
Statements
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen (English)
M Duvic
M Atkinson
M Robinow
L T Smith
S M Krane
M T Greally
M Ludman
R Matalon
D Quanbeck