Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene.

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Q33733528-A4A9CEC9-BD86-4C46-B19C-768B155BA087

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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2012 nî lūn-bûn

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

@ast

Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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P1476

Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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Franciele B Leidenz

http://www.w3.org/2001/XMLSchema#string

Helena C Sarubi

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Juliana G Carneiro

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Luiz De Marco

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Rachel Melilo-Carolino

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Raphael D Liberatore Junior

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P2860

An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex

Cloning, characterization, and chromosomal mapping of human aquaporin of collecting duct

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene

Point mutations in the aromatic/arginine region in aquaporin 1 allow passage of urea, glycerol, ammonia, and protons

Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus

Molecular biology of hereditary diabetes insipidus.

Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

Novel mutation of aquaporin-2 gene in a patient with congenital nephrogenic diabetes insipidus.

New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.

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79-82

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scholarly article

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10.6061/CLINICS/2012(01)13

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2012-01-01T00:00:00Z

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221751620

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22249485

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3248606

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Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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P2860

P2860

Novel compound aquaporin 2 mutations in nephrogenic diabetes insipidus

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P932