FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients.

Abstract excerpt

Fanconi anemia (FA), a rare heterogeneous genetic disorder, is known to be associated with 19 genes and a spectrum of clinical features. We studied FANCA molecular changes in 34 unrelated and 2 siblings of Indian patients with FA and have identified 26 different molecular changes of FANCA gene, of which 8 were novel mutations (a small deletion c.2500delC, 4 non-sense mutations c.2182C>T, c.2630C>G, c.3677C>G,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Chromosome Fragile Sites
• Share to Fanconi Anemia
• Share to Fanconi Anemia Complementation Group A Protein
• Share to Genotype