Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identifi...

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Detalhes bibliográficos
Main Authors: Pang, Junfeng, Zhang, Shu, Yang, Ping, Hawkins-Lee, Bobbilynn, Zhong, Jixin, Zhang, Yushan, Ochoa, Bernardo, Agundez, Jose A.G., Voelckel, Marie-Antoinette, Gu, Weikuan, Xiong, Wen-Cheng, Mei, Lin, She, Jin-Xiong, Wang, Cong-Yi
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3032074/
https://ncbi.nlm.nih.gov/pubmed/20560209
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.04.016
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