Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of...

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Hauptverfasser: Stover, E, Borthwick, K, Bavalia, C, Eady, N, Fritz, D, Rungroj, N, Giersch, A, Morton, C, Axon, P, Akil, I, Al-Sabban, E, Baguley, D, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M, Guala, A, Hulton, S, Kroes, H, Li, V, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez, S, Sanjad, S, Tasic, V, Taylor, C, Topaloglu, R, Smith, A, Karet, F
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2002
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735017/
https://ncbi.nlm.nih.gov/pubmed/12414817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.11.796
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