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A patient with the Simpson–Golabi–Behmel syndrome displays a loss‐of‐function point mutation in GPC3 that inhibits the attachment of this proteoglycan to the cell surface
Author(s) -
Shi Wen,
Filmus Jorge
Publication year - 2009
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.32669
Subject(s) - medicine , chemistry