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Article

[Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2015

Gong Zhuwen, Yu Yongguo, Zhang Qigang, Gu Xuefan

Abstract excerpt

OBJECTIVE: To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing. METHODS: For the affected child, potential mutations of the FANCA gene were analyzed with NGS. Suspected mutation was verified with Sanger sequencing. For prenatal diagnosis, genomic DNA was extracted from cultured fetal amniotic...

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Source

Identifiers

PMID: 25863087
DOI: 10.3760/cma.j.issn.1003-9406.2015.02.011

Genes

FANCA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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