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Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy
Author(s) -
Seidahmed Mohammed Zain,
Salih Mustafa A.,
Abdelbasit Omer Bashir,
Alassiri Ali H.,
Hussein Khalid Al,
Miqdad Abeer,
Samadi Abdelmohsin,
Rasheed Abdallah Al,
Alorainy Ibrahim A.,
Shaheen Ranad,
Alkuraya Fowzan S.
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37768
Subject(s) - nemaline myopathy , gene , genetics , biology