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Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

Archive ouverte | Nagara, Majdi | CCSD

International audience. AIM OF THE STUDY Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the famili...

Molecular Investigation of Distal Renal Tubular Acidosis in Tunisia, Evidence for Founder Mutations

Archive ouverte | Nagara, Majdi | CCSD

International audience. Background: Distal renal tubular acidosis (dRTA) is a rare genetic disease caused by mutations in different genes involved in the secretion of H+ ions in the intercalated cells of the collect...

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

Archive ouverte | Riahi, Zied | CCSD

International audience. OBJECTIVES: Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most important mutations in this gene is the c.35del...

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