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) -
Salma Ben-Salem,
Mariam A Aljneibe,
Khouloud M Khozaimy,
Khouloud M Al-Kathiri,
Shamsa S Alameri,
Bassam R. Ali,
Lihadh AlGazali
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 , biology , mutation , rna splicing , frameshift mutation , gene , splice site mutation , bioinformatics , medicine , alternative splicing , rna