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Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations ( Am J Med Genet 85: 5–8(1999))
Author(s) -
Huie M.L.,
Kasper J.S.,
Arn P.H.,
Greenberg C.R.,
Hirschhorn R.
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.30830
Subject(s) - nonsense mutation , nonsense , mutation , genetics , section (typography) , combinatorics , gene , biology , mathematics , computer science , missense mutation , operating system