Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

about

Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.

Item

http://www.wikidata.org/entity/Q50868152

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Novel variants in Nordic patie ...... of telomere-related disorders.

@en

Novel variants in Nordic patie ...... of telomere-related disorders.

@nl

type

Item

label

Novel variants in Nordic patie ...... of telomere-related disorders.

@en

Novel variants in Nordic patie ...... of telomere-related disorders.

@nl

prefLabel

Novel variants in Nordic patie ...... of telomere-related disorders.

@en

Novel variants in Nordic patie ...... of telomere-related disorders.

@nl

P1476

Novel variants in Nordic patie ...... of telomere-related disorders.

@en

P2093

Anna Norberg

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

Anna Rosén

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

Astrid O Kittang

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

Aymen Ahmed

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

Klas Raaschou-Jensen

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

Lars Kjeldsen

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

Magnus Hultdin

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

Panagiotis Baliakas

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

Pär Larsson

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

Ylva Paulsson-Karlsson

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

P2860

Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Telomere measurement by quantitative PCR

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

The telomere syndromes

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

Analysis of protein-coding genetic variation in 60,706 humans

P2888

s41431-018-0112-8

P31

scholarly article

P356

10.1038/S41431-018-0112-8

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

P50

P577

2018-02-26T00:00:00Z

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

P698

29483670

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

P932

5974393

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