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Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050–54) unusual for not being missense mutations
Author(s) -
Hirschhorn R.,
Chen A. S.,
Israni A.,
Yang D. R.,
Huie M. L.
Publication year - 1993
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.1380020415
Subject(s) - medical genetics , missense mutation , genetics , library science , biology , mutation , computer science , gene