[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].

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Abstract

To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China.

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Journal

Journal ID (iso-abbrev): Zhonghua Yi Xue Yi Chuan Xue Za Zhi

Title: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

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ISSN: 1003-9406

ISSN (Print): 1003-9406

Publication date (Electronic): Apr 2008

Volume: 25

Issue: 2

Affiliations

[1 ] Sichuan Provincial Key Laboratory for Human Disease Gene, Sichuan Academy of Medical Science & Sichuan Provincial Peoples' Hospital, Chengdu, Sichuan, 610072 P. R. China.

Article

Publisher Item ID: 940625031

PubMed ID: 18393234

SO-VID: f7857e7f-93d6-4597-b83d-82877b376cf9

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