Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

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Dermal and Ophthalmic Findings in Pseudohypoaldosteronism.

P2860

Q36038857-2A117D2E-3FE5-49F4-AF65-EA7D7E34B4EF

P2860

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

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http://www.wikidata.org/entity/Q44263591

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2002 nî lūn-bûn

@nan

2002年の論文

@ja

2002年学术文章

@wuu

2002年学术文章

@zh-cn

2002年学术文章

@zh-hans

2002年学术文章

@zh-my

2002年学术文章

@zh-sg

2002年學術文章

@yue

2002年學術文章

@zh

2002年學術文章

@zh-hant

name

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@en

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@nl

type

Item

label

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@en

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@nl

prefLabel

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@en

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@nl

P1476

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

@en

P2093

Ahmet Akçay

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Mehmet Demirdöven

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

Rüveyde Bundak

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

Serap Semiz

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Taner Yavuz

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P2860

A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I

The lung amiloride-sensitive Na+ channel: biophysical properties, pharmacology, ontogenesis, and molecular cloning

A salt wasting syndrome in infancy

Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel

Type I pseudohypoaldosteronism includes two clinically and genetically distinct entities with either renal or multiple target organ defects

Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits

Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1

Na+ transport in cystic fibrosis respiratory epithelia. Abnormal basal rate and response to adenylate cyclase activation.

Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na+ channel lacking the pore-forming region of its alpha subunit.

P304

1557-1561

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P31

scholarly article

P356

10.1515/JPEM.2002.15.9.1557

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P433

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

P478

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

P577

2002-11-01T00:00:00Z

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P5875

6119430

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P698

12503866

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Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

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P2860

P2860

Pseudohypoaldosteronism type 1 and respiratory distress syndrome.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698