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[Genetic analysis in the clinical diagnosis of Ehlers-Danlos syndrome type IV].

Zhonghua yi xue za zhi - 26 Apr 2011

Chen Bing, Guan Yun-qian, Wu Xiao-le, Qi Yi-xia, Yu Heng-xi, Li Jian-xin, Zhang Jian

Abstract excerpt

OBJECTIVE: To ascertain the diagnosis of such a rare disease as Ehlers-Danlos syndrome type IV by the technique of DNA(deoxyribonucleic acid)analysis. METHODS: The primer sequences of Col3A1 gene were designed. Genomic DNA was isolated from the peripheral blood samples. The amplification of polymerase chain reaction (PCR) was performed and direct sequencing used to screen the mutations. A definite diagnosis was...

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PMID: 21609597

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

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