A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene. - Wikidata - awgldk - TriplyDB

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.

http://www.wikidata.org/entity/Q34799197

about

Pseudohypoaldosteronism in a newborn male with functional polymorphisms in the mineralocorticoid receptor genes.

P2860

Q41822493-FBC31516-7536-4259-8F98-FED710C1C070

P2860

A case of pseudohypoaldosteronism type 1 with a mutation in the mineralocorticoid receptor gene.

http://www.wikidata.org/entity/Q34799197

description

2011 nî lūn-bûn

@nan

2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@ast

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@en

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@nl

type

label

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@ast

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@en

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@nl

prefLabel

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@ast

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@en

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@nl

P1433

Q34799197-D4F4A8EA-45EB-4673-90C8-FB97B086CE09

P1476

Q34799197-12502ABA-9487-4C54-8D21-74A8054C24FB

P2093

Q34799197-19C79426-8B0B-492B-A7C2-36EC7102B201

Q34799197-3295BAF6-EC2A-44C2-BFF2-724D9550659B

Q34799197-80721083-4B78-4CCC-AD2E-2CCA6A537E43

Q34799197-B52AC596-D43E-4F02-92BC-C1521FEB8121

Q34799197-C725219A-3A7C-4011-B045-C48F0E198C36

Q34799197-C8038046-AFFE-49CF-8E87-6790D5D64DED

Q34799197-D66D0EC5-1AD0-4E01-816C-E39D4DC83C02

Q34799197-E6DCA04F-7C81-46CA-8AA0-276FBFEBDDC2

P2860

Q34799197-0908CB3B-1752-4A7E-BB26-58B9FC445C9B

Q34799197-13E4E054-30BD-46C8-B056-4A4213A31718

Q34799197-230619C4-4727-471C-828F-A112F767C58B

Q34799197-260DA184-F1E0-4976-948D-6A72709513D5

Q34799197-3151BA74-A2AC-4A80-859D-BE77F7F59C63

Q34799197-80229A67-30FC-4F65-9627-3DB0EF4928A6

Q34799197-8CD74E72-3CC4-47F9-9877-4DBF8B73D22C

Q34799197-EA6A4394-C5BD-4464-ADF0-656C23257E07

Q34799197-EF8407AD-93BA-4ADD-B8BF-85CD2CE80C57

Q34799197-F4EAA917-6B7C-4349-8FED-6BC5899D8142

P304

Q34799197-38E73FE1-6643-449E-8DCA-6AAE013B4F6A

P31

Q34799197-A22C48B5-8E50-4D85-8885-4B5AD26E2A3C

Q34799197-a0f7e217-c174-4157-a5c1-7940cc8a223e

P356

Q34799197-E3CC1772-CC37-4F99-96F8-4E18D2FB8F81

P433

Q34799197-E0261FFE-6FD3-41FB-AAE0-92AAD9AB11FD

P478

Q34799197-BF00E5FD-0E11-40F4-AAB6-8754C42DD877

P577

Q34799197-05BF5155-EC99-4D7D-983F-3B4DD4573018

P5875

Q34799197-AC37999C-579D-4A4B-9627-1846BC939DEF

P698

Q34799197-370D85A7-BD56-43AE-A939-424C93E46B26

P932

Q34799197-ADFDB7A0-FC4D-461B-BF30-FC789A227CE3

P356

KJP.2011.54.2.90

P1433

Korean journal of pediatrics

P1476

A case of pseudohypoaldosteron ...... neralocorticoid receptor gene.

@en

P2093

Hae Il Cheong

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

Hee Gyung Kang

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

Hyun Kyung Lee

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

Il Soo Ha

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

Kyoung Hee Han

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

Se Eun Lee

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

Yong Choi

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

Yun Hye Jung

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

P2860

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

A salt wasting syndrome in infancy

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

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

Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.

Clinical and molecular features of type 1 pseudohypoaldosteronism.

Pseudohypoaldosteronism: mutation found, problem solved?

Identification of a novel mutation in the human mineralocorticoid receptor gene in a german family with autosomal-dominant pseudohypoaldosteronism type 1: further evidence for marked interindividual clinical heterogeneity.

A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type 1.

Autosomal Dominant Pseudohypoaldosteronism Type 1: Mechanisms, Evidence for Neonatal Lethality, and Phenotypic Expression in Adults

P304

90-93

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

P31

scholarly article

P356

10.3345/KJP.2011.54.2.90

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

P433

2

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

P478

54

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

P577

2011-02-28T00:00:00Z

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

P5875

51060919

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

P698

21503203

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

P932

3077507

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