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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial marfan syndrome phenotype
Author(s) -
Black Cheryl,
Withers Anne P.,
Gray Jonathon R.,
Bridges Allan B.,
Craig Ashley,
Baty David U.,
Boxer Maureen
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380110164
Subject(s) - medical genetics , withers , molecular pathology , genetics , molecular genetics , biology , medicine , gene , body weight