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Article

[Clinical features and genotype analysis in a case of dyskeratosis congenita].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University - 1 Apr 2015

Yuan Shan-Shan, Lu Yi-Dan, Wu Cui-Ling, Li Hui-Ping, Ge Hui, Zhang Yu-Ming

Abstract excerpt

OBJECTIVE: To analyze the clinical features and genotype in a 8-year-old boy with dyskeratosis congenita (DC). METHODS: We reviewed the clinical data of the case and amplified 7 DC-related genes (including DKC1,TERT,TERC,TINF2,NOP10, NHP2 and WRAP53) using polymerase chain reaction for DNA sequence analysis to identify the abnormal exons. RESULTS: DNA sequence analysis showed a c.85-15T>C mutation in DKC1 gene of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25907943

Genes

DKC1
NHP2
NOP10
TERT
TINF2

Provenance

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