A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance
نویسندگان
چکیده
منابع مشابه
Phenotype and HOXD13 gene mutation in a big synpolydactyly (SPD) pedigree
Objective: To study the phenotype and HOXD13 gene mutation of a big synpolydactyly (SPD) Pedigree in Henan Province of China. Methods: The SPD pedigree was taken as research subjects; 13 surviving patients were examined clinically; PCR was used to amplify HOXD13 gene first exon and PCR products were sequenced to detect mutations. Results: In the SPD pedigree, the proportion of sick men and wome...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2011
ISSN: 1434-5161,1435-232X
DOI: 10.1038/jhg.2011.84