Characterization of two novel FANCG mutations in Indian Fanconi anemia patients.

doi:10.1016/j.leukres.2016.11.013

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Article

Characterization of two novel FANCG mutations in Indian Fanconi anemia patients.

Leukemia research - 1 Feb 2017

Solanki Avani, Kumar Selvaa C, Sheth Frenny, Radhakrishnan Nita, Kalra Manas, Vundinti Babu Rao

Abstract excerpt

FA is a rare recessive genetic disorder with autosomal or X-linked mode of inheritance and is associated with 19 different FA complementation groups. We have studied three patients clinically diagnosed as FA. All three patients showed a high frequency chromosomal breakage in MMC induced blood cultures and FANCD2 non-monoubiquitination by western blotting. The molecular analysis using direct sequencing revealed...

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Identifiers

PMID: 28024295
DOI: 10.1016/j.leukres.2016.11.013

Genes

FANCG
FANCD2
TPR

Variants

Provenance

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