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A novel splice site mutation (IVS17‐2A>C) associated with Hermansky‐Pudlak Syndrome
Author(s) -
Wildenberg Scott C.,
Fryer James P.,
Oetting William S.,
King Richard A.
Publication year - 1999
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/(sici)1098-1004(1999)13:6<506::aid-humu18>3.0.co;2-s
Subject(s) - human genetics , genetics , biology , gene