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

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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
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Language:English
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Biological and medical sciences
Errors of metabolism
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
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container_end_page 803
container_issue 11
container_start_page 796
container_title Journal of medical genetics
container_volume 39
creator 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
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1468-6244
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source Open Access: PubMed Central
subjects Biological and medical sciences
Errors of metabolism
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
title Novel ATP6V1B1 and ATP6VOA4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
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