A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly

Babcock, D.; Gasner, C.; Francke, U.; Maslen, C.

Human Genetics 103(1): 22-28

1998

0340-6717

10.1007/s004390050777

https://eurekamag.com/research/008/077/008077447.php