Article
Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
Molecular biology reports - 1 Jan 2023
Behera Chinmay Kumar, Gyandeep Gummalla, Mishra Reshmi, Mohanty Rashmi Priya, Pal Aditi, Behera Jyotika, Samal Sagnika, Das Biswadeep
Abstract excerpt
BACKGROUND: Fanconi anemia (FA) is a rare genetic disorder and one of the most common inherited forms of aplastic anemia. FA is an autosomal recessive or X-linked genetic disorder that is characterized by typical physical malformations and haematopoietic anomalies. In most cases of FA, patients harbor homozygous or double heterozygous mutations in the FANCA (60-65%), FANCC (10-15%), FANCG (~ 10%), FANCD2 (3-6%)...
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