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Article

Transcription factor FIGLA is mutated in patients with premature ovarian failure.

American journal of human genetics - 1 Jun 2008

Zhao Han, Chen Zi-Jiang, Qin Yingying, Shi Yuhua, Wang Shan, Choi Youngsok, Simpson Joe Leigh, Rajkovic Aleksandar

Abstract excerpt

Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotropic ovarian failure and infertility. We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C --> A (p.A4E) was found in two women; deletion c. 15-36 del (p.G6fsX66), resulting in a frameshift that leads to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Protein Structure, Quaternary

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Source

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Identifiers

PMID: 18499083
DOI: 10.1016/j.ajhg.2008.04.018
PMCID: PMC2427265

Genes

FIGLA
TCF3

Variants

Provenance

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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