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Article

Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.

Turkish journal of medical sciences - 18 Apr 2017

Aftab Iram, Iram Saima, Khaliq Saba, Israr Muhammad, Ali Nadir, Jahan Shah, Hussain Shabbir, Khaliq Shagufta, Mohsin Shahida

Abstract excerpt

BACKGROUND/AIM: Fanconi anemia (FA) is an autosomal recessive disease determined by mutations in at least 16 genes, with distinct distributions in different populations. To the best of our knowledge, there are no reports regarding the molecular basis of the disease in FA patients in Pakistan. The current study aimed to determine the frequency of FANCC gene mutations, i.e. IVS4+4A>T, del322G, and R548X, in FA...

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Source

Identifiers

PMID: 28425259
DOI: 10.3906/sag-1506-53

Genes

FANCC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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