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Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism

✍ Scribed by Jindal, Radhika; Ahmad, Ayesha; Siddiqui, Mohammad Asim; Kochar, Inderpal Singh; Wangnoo, Subhash Kumar

Book ID: 120370424
Publisher: Elsevier
Year: 2014
Tongue: English
Weight: 340 KB
Volume: 8
Category: Article
ISSN: 1871-4021
DOI: 10.1016/j.dsx.2013.02.018

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## How Fancbni anemia (FA) is a rare autosomal recessive disease characterized by diverse clinical symptoms, chromosomal instability, and hypersensitivity