| Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis. | |
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MedLine Citation:
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PMID: 22854161 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Few data regarding molecular diagnosis of primary distal renal tubular acidosis (DRTA) in Tunisian population are available. Case report: 25-day-old male patient from consanguineous parents of Tunisian origin diagnosed with DRTA and without hearing impairment observed later in life. ATP6V0A4 gene sequencing demonstrated a novel homozygous G deletion in exon 13 (c.1221delG, p.Met408CysfsX10), leading to a premature stop codon. Conclusion: A novel ATP6V0A4 gene mutation confirmed autosomal recessive DRTA with normal hearing in the patient. Molecular analysis may help to rapidly diagnose autosomal recessive DRTA in Tunisian population. |
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Authors:
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Donia El Hayek; Hassan Bouzidi; Gustavo Pérez de Nanclares; Habib Soua; Jemni Ben Chibani; Gema Ariceta; Luis Castaño; Amel Haj Khelil |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-8-1 |
Journal Detail:
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Title: Clinical nephrology Volume: - ISSN: 0301-0430 ISO Abbreviation: Clin. Nephrol. Publication Date: 2012 Aug |
Date Detail:
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Created Date: 2012-8-2 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0364441 Medline TA: Clin Nephrol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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