Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

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Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

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2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

Mutations in ATP6V1B1 and ATP6 ...... acidosis in Mexican families.

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type

Item

label

Mutations in ATP6V1B1 and ATP6 ...... acidosis in Mexican families.

@en

prefLabel

Mutations in ATP6V1B1 and ATP6 ...... acidosis in Mexican families.

@en

P1476

Mutations in ATP6V1B1 and ATP6 ...... acidosis in Mexican families.

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P2093

Carolina Salvador

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Christopher Simian

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Cyrielle Treard

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Donia Hayek

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Laura I Escobar

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Mara Medeiros

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Mario Matos

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María Dolores Camargo

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Norma Guerra

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Rosa Vargas-Poussou

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P2860

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene

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

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion

Co-expression of pendrin, vacuolar H+-ATPase alpha4-subunit and carbonic anhydrase II in epithelial cells of the murine endolymphatic sac

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

P304

303-311

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P31

scholarly article

P356

10.1002/MGG3.205

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P433

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P478

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Rosa Vargas-Poussou

P577

2016-02-14T00:00:00Z

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P5875

294579069

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P698

27247958

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P932

4867564

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