Novel ATP6V1B1 and ATP6VOA4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

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Bibliographic Details
Published in:Journal of medical genetics 2002, Vol.39 (11), p.796-803
Main Authors: STOVER, E. H, BORTHWICK, K. J, AL-SABBAN, E. A, BAGULEY, D. M, BIANCA, S, BAKKALOGLU, A, BIRCAN, Z, CHAUVEAU, D, CLERMONT, M-J, GUALA, A, HULTON, S. A, KROES, H, BAVALIA, C, LI VOLTI, G, MIR, S, MOCAN, H, NAYIR, A, OZEN, S, RODRIGUEZ SORIANO, J, SANJAD, S. A, TASIC, V, TAYLOR, C. M, TOPALOGLU, R, EADY, N, SMITH, A. N, KARET, F. E, FRITZ, D. M, RUNGROJ, N, GIERSCH, A. B. S, MORTON, C. C, AXON, P. R, AKIL, I
Format: Article
Language:English
Subjects:
Biological and medical sciences
Errors of metabolism
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Online Access:Get full text
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ISSN:0022-2593
1468-6244