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Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH
Author(s) -
Dagnewu Kidist Y.,
Ayele Adane,
Liu Lu,
Pramanik Rashida,
Onoufriadis Alexandros,
Abebe Esubalewu,
McGrath John A.
Publication year - 2020
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.14724
Subject(s) - medicine , missense mutation , family medicine , mutation , genetics , gene , biology