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Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss

✍ Scribed by N Mohebbi; R Vargas-Poussou; SCA Hegemann; B Schuknecht; AD Kistler; RP Wüthrich; CA Wagner

Book ID: 119981564
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 801 KB
Volume: 83
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2012.01891.x

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## Abstract Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal dominant and subject to age‐dependent penetrance and imprinting. The paraganglioma gene (__PGL1__) has been mapped t