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Identification of a new missense mutation in exon 2 of the human hypoxanthine phosphoribosyltransferase gene (HPRT Isar ): A further example of clinical heterogeneity in HPRT deficiencies
Author(s) -
Burgemeister R.,
Rötzer E.,
Gutensohn W.,
Gehrke M.,
Schiel W.
Publication year - 1995
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.1380050413
Subject(s) - missense mutation , hypoxanthine guanine phosphoribosyltransferase , biology , exon , microbiology and biotechnology , mutation , genetics , gene , mutant