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[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2004

Lu Jun-feng, Ma Hong-wei, Jiang Jun, Niu Guo-hui, Liu Xiao-mei

Abstract excerpt

OBJECTIVE: To investigate further the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL). METHODS: Single strand conformation polymorphism (SSCP) combined with polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to detect the mutation for the coding exons of SEDL gene as well as their exon/intron boundaries in 5 unrelated Chinese boys clinically...

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PMID: 15300622

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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