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Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1

Autor: Feng-yu Wang, Cong-Min Li, Hui-gen Feng, Shu-Li Han, Wei-Wei Sun, Ming-Xiu Chang

Publikováno v: Hereditas (Beijing). 33:147-152

We identified and characterized a Chinese family with autosomal dominant Brachydactyly type B1 (BDB1). Linkage analysis revealed that the disease gene of the Chinese BDB1 family was linked to ROR2 locus. Mutational hot spot of ROR2 gene was amplified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2bacce5035ec9c7a09d18cf49cf4169
https://doi.org/10.3724/sp.j.1005.2011.00147

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[Mutation analysis of the pathogenic gene in a Chinese family with Brachydactyly type B1]

Autor: Cong-Min, Li, Feng-Yu, Wang, Wei-Wei, Sun, Shu-Li, Han, Ming-Xiu, Chang, Hui-Gen, Feng

Publikováno v: Yi chuan = Hereditas. 33(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3bbcb9adc146646ca54370891ce63fde
https://pubmed.ncbi.nlm.nih.gov/21377971

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