Open Access
A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
Author(s) -
Senem Ayça,
Hamide Betül Gerik Çelebi,
Sırrı Çam,
Muzaffer Polat
Publication year - 2020
Publication title -
haseki tıp bülteni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.113
H-Index - 4
eISSN - 2147-2688
pISSN - 1302-0072
DOI - 10.4274/haseki.galenos.2019.5177
Subject(s) - frameshift mutation , congenital muscular dystrophy , muscular dystrophy , mutation , genetics , medicine , biology , gene