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Identification of a donor splice site mutation leading to loss of p22‐ phox exon 5 in autosomal chronic granulomatous disease
Author(s) -
Porter Colin D.,
Parkar Mohamed H.,
Kin Christine
Publication year - 1996
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(1996)7:4<374::aid-humu16>3.0.co;2-#
Subject(s) - biology , exon , splice site mutation , genetics , identification (biology) , mutation , splice , chronic granulomatous disease , disease , gene , alternative splicing , pathology , medicine , botany