Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

about

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Item

http://www.wikidata.org/entity/Q55043798

description

2007 nî lūn-bûn

@nan

2007年の論文

@ja

2007年学术文章

@wuu

2007年学术文章

@zh-cn

2007年学术文章

@zh-hans

2007年学术文章

@zh-my

2007年学术文章

@zh-sg

2007年學術文章

@yue

2007年學術文章

@zh

2007年學術文章

@zh-hant

name

Novel polymorphisms and lack o ...... ith ACTH resistance syndromes.

@en

Novel polymorphisms and lack o ...... ith ACTH resistance syndromes.

@nl

type

Item

label

Novel polymorphisms and lack o ...... ith ACTH resistance syndromes.

@en

Novel polymorphisms and lack o ...... ith ACTH resistance syndromes.

@nl

prefLabel

Novel polymorphisms and lack o ...... ith ACTH resistance syndromes.

@en

Novel polymorphisms and lack o ...... ith ACTH resistance syndromes.

@nl

P1476

Novel polymorphisms and lack o ...... with ACTH resistance syndromes

@en

P2093

Adrian J L Clark

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

Andrea S Krause

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

Angela Huebner

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

Catherine E Keegan

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

Constantine A Stratakis

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

Gary D Hammer

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

Katrin Koehler

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

Sosipatros Boikos

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

Sotirios Stergiopoulos

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

P2860

PTOP interacts with POT1 and regulates its localization to telomeres

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

The International HapMap Project

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

Mutant WD-repeat protein in triple-A syndrome

Triple A syndrome: genotype-phenotype assessment

Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005

Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator

IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

P304

168-174

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

P31

scholarly article

P356

10.1111/J.1365-2265.2007.02855.X

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

P433

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

P478

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

P50

Janna Hutz

Lou Metherell

P577

2007-04-27T00:00:00Z

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

P5875

6363935

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

P698

17466001

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