Novel mutation in wolcott-rallison syndrome with variable expression in two omani siblings

about

Novel mutation in wolcott-rallison syndrome with variable expression in two omani siblings

Item

http://www.wikidata.org/entity/Q40016471

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Novel mutation in wolcott-rall ...... pression in two omani siblings

@en

type

Item

label

Novel mutation in wolcott-rall ...... pression in two omani siblings

@en

prefLabel

Novel mutation in wolcott-rall ...... pression in two omani siblings

@en

P1476

Novel mutation in wolcott-rall ...... pression in two omani siblings

@en

P2093

Fathyia Al-Murshedi

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

Sharef Waadallah Sharef

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

Siham Al-Sinani

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

Watfa Al-Maamari

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

P2860

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity

The PERK eukaryotic initiation factor 2 alpha kinase is required for the development of the skeletal system, postnatal growth, and the function and viability of the pancreas

Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

PERK eIF2 alpha kinase is required to regulate the viability of the exocrine pancreas in mice.

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency

Wolcott-Rallison syndrome

Frequency and spectrum of Wolcott-Rallison syndrome in Saudi Arabia: a systematic review.

A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome.

Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature.

P304

138-141

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

P31

scholarly article

case report

P356

10.5001/OMJ.2015.29

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

P433

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

P478

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

P50

Saif Al-Yaarubi

P577

2015-03-01T00:00:00Z

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

P5875

276077272

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

P698

25960841

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

P921

sibling

Oman

P932

4412448

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