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Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A
Author(s) -
Abd Elmaksoud M. S.,
Gomaa N. S.,
Azouz H. G.,
On C. N. V.,
Ho C. T.,
Omar T. E.,
McGrath J. A.,
Onoufriadis A.
Publication year - 2020
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.14220
Subject(s) - hypopigmentation , biology , genetics , nonsense mutation , phenotype , gene , missense mutation
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