A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy
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چکیده
منابع مشابه
Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia
Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2015
ISSN: 2054-345X
DOI: 10.1038/hgv.2015.22