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An A‐to‐C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease)
Author(s) -
Tsujino Seiichi,
Rubin Laurence A.,
Shanske Sara,
DiMauro Salvatore
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.1380040113
Subject(s) - muscular dystrophy , medicine , columbia university , neurology , gerontology , pediatrics , psychiatry , media studies , sociology