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Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency
Author(s) -
Sahota Amrik,
Chen Ju,
Bye Steven,
Jaing James,
Berenyi M.,
Fekete Gyorgy,
Tischfield Jay A.
Publication year - 1994
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.1380030324
Subject(s) - medical genetics , missense mutation , medical school , genetics , medicine , gerontology , biology , mutation , medical education , gene