Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

about

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

Item

http://www.wikidata.org/entity/Q39906643

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@en

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@nl

type

Item

label

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@en

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@nl

prefLabel

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@en

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@nl

P1476

Novel ATRX gene damaging misse ...... cy without alpha thalassaemia.

@en

P2093

Arnold Munnich

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

Carlos Trujillo

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

Habib Bouazzi

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

Mohammad Khalid Alwasiyah

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

Seema Thakur

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

P2860

Alpha thalassaemia-mental retardation, X linked

Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Exome sequencing as a tool for Mendelian disease gene discovery

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia

Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

P304

43-48

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

P31

scholarly article

P356

10.4103/0971-5916.178589

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

P407

English

P433

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

P478

143

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

P577

2016-01-01T00:00:00Z

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

P698

26997013

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

P932

4822368

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