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Mutation in the von Willebrand factor‐A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia
Author(s) -
Maeda Koichi,
Nakashima Eiji,
Horikoshi Taizo,
Mabuchi Akihiko,
Ikegawa Shiro
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30832
Subject(s) - snp , research center , joint (building) , mutation , genetics , biology , medicine , pathology , engineering , gene , single nucleotide polymorphism , genotype , structural engineering