TY  - JOUR
AN  - 008077447
AU  - Babcock,D.
AU  - Gasner,C.
AU  - Francke,U.
AU  - Maslen,C.
PY  - 1998
TI  - A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly
JO  - Human Genetics
VL  - 103
IS  - 1
SP  - 22
EP  - 28
SN  - 0340-6717
DO  - 10.1007/s004390050777
UR  - https://eurekamag.com/research/008/077/008077447.php
ER  -