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[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family].

Zhonghua yi xue za zhi - 1 Nov 2000

Chen X, Li G, Zhu X

Abstract excerpt

OBJECTIVE: To identify gene mutation of a epidermolysis bullosa pruriginosa family. METHODS: Polymerase chain reaction (PCR), DNA sequencing, multiplex PCR using allele-specific oligonucleotide primers. RESULTS: A G6100A transition of COL7A1 was found in patients, resulting in G2034R substitution in type VII collagen. The mutation was not found in control normal individuals. CONCLUSION: The mutation of G2034R is...

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PMID: 11218887

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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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