Open AccessA novel splice site deletion in the OFD1 gene is responsible for oral–facial–digital syndrome type 1 in an Emirati child
Author(s) -
Lihadh AlGazali,
Salma BenSalem,
MariamA Aljneibe,
KhouloudM Khozaimy,
KhouloudM Al-Kathiri,
ShamsaS Alameri,
BassamR Ali
Publication year - 2015
Publication title -
hamdan medical journal
Language(s) - English
Resource type - Journals
eISSN - 2227-247X
pISSN - 2227-2437
DOI - 10.7707/hmj.322
Subject(s) - genetics , exon , mutation , frameshift mutation , biology , rna splicing , gene , splice site mutation , sanger sequencing , bioinformatics , medicine , alternative splicing , rna
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