A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.

about

Diagnosis of diseases of steroid hormone production, metabolism and action.Two Japanese patients with the renal form of pseudohypoaldosteronism type 1 caused by mutations of NR3C2

P2860

Q34161154-DEB4CF13-3ECE-4842-B527-A5632BE83D83 Q36265173-57E10AD0-4A14-4268-939B-701B01499638

P2860

A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.

Item

http://www.wikidata.org/entity/Q44984942

description

2009 nî lūn-bûn

@nan

2009年の論文

@ja

2009年学术文章

@wuu

2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

2009年學術文章

@zh

2009年學術文章

@zh-hant

name

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@en

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@nl

type

Item

label

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@en

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@nl

prefLabel

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@en

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@nl

P1476

A novel nonsense mutation of t ...... seudohypoaldosteronism type 1.

@en

P2093

Ichiro Yokota

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

Masaaki Shiohara

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

Noriko Uchida

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

Shinichiro Miyagawa

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

Tetsuo Mori

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

P2860

Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor

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

Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.

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.

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

Autosomal-dominant pseudohypoaldosteronism type 1 in a Turkish family is associated with a novel nonsense mutation in the human mineralocorticoid receptor gene.

A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).

Folding requirements of the ligand-binding domain of the human mineralocorticoid receptor.

P304

91-95

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

P31

scholarly article

P356

10.1515/JPEM.2009.22.1.91

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

P433

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

P478

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

P577

2009-01-01T00:00:00Z

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

P698

19344080

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

A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.

about

P2860

P2860

A novel nonsense mutation of the mineralocorticoid receptor gene in the renal form of pseudohypoaldosteronism type 1.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698