Ferrara β0 thalassaemia caused by the β39 nonsense mutation
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چکیده
منابع مشابه
A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene
period, and respiratory distress due to laryngotracheomalacia contributes to neonatal death in these patients. Therefore, only a few patients with CMD survive past infancy. Survivors beyond infancy may also have scoliosis, short stature, and hearing loss with age. CMD is caused by haploinsufficiency of the SOX9 gene at 17q24. The SOX9 protein is widely expressed as a transcription factor in man...
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ژورنال
عنوان ژورنال: Nature
سال: 1984
ISSN: 0028-0836,1476-4687
DOI: 10.1038/307076a0