A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree

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A novel AVPR2 gene mutation of X-linked congenital nephrogenic diabetes insipidus in an Asian pedigree

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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

A novel AVPR2 gene mutation of ...... insipidus in an Asian pedigree

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label

A novel AVPR2 gene mutation of ...... insipidus in an Asian pedigree

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prefLabel

A novel AVPR2 gene mutation of ...... insipidus in an Asian pedigree

@en

P1476

A novel AVPR2 gene mutation of ...... insipidus in an Asian pedigree

@en

P2093

Hong-Yan Lu

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Hong-Yan Wei

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Mei Zhu

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Qiang Li

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Wei-Hong Guo

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P2860

Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus

A novel therapeutic effect of statins on nephrogenic diabetes insipidus

A method and server for predicting damaging missense mutations

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

Molecular cloning of the receptor for human antidiuretic hormone

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus

Molecular biology of hereditary diabetes insipidus.

A novel deletion mutation of the arginine vasopressin receptor 2 gene in a Japanese infant with nephrogenic diabetes insipidus.

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.

P304

1131-1137

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P31

scholarly article

case report

P356

10.1177/0300060516655642

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P433

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P478

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P50

Hui-Qi Qu

P577

2016-09-27T00:00:00Z

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P698

27565746

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P921

birth defect

P932

5536559

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