Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

about

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.[Titin-related muscle disorders: an expanding spectrum].The complexity of titin splicing pattern in human adult skeletal muscles.Congenital titinopathy: Comprehensive characterisation and pathogenic insights.

P2860

Q49025523-0CC5B5AE-3AC5-4D92-92FB-4E7A9920AF2D Q50008331-8CC960ED-7E5E-4DD8-BF3D-ED28B9927B48 Q52337736-8AB64EC3-966D-4803-B128-8A2654AB4295 Q52565198-9467EB4B-1E88-4ABD-9CB6-C3D6B078C942

P2860

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

Item

http://www.wikidata.org/entity/Q49141383

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

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-hant

name

Targeted Next-Generation Seque ...... Recessive Distal Titinopathy.

@en

Targeted Next-Generation Seque ...... Recessive Distal Titinopathy.

@nl

type

Item

label

Targeted Next-Generation Seque ...... Recessive Distal Titinopathy.

@en

Targeted Next-Generation Seque ...... Recessive Distal Titinopathy.

@nl

prefLabel

Targeted Next-Generation Seque ...... Recessive Distal Titinopathy.

@en

Targeted Next-Generation Seque ...... Recessive Distal Titinopathy.

@nl

P1476

Targeted Next-Generation Seque ...... g Recessive Distal Titinopathy

@en

P2093

Anna Vihola

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

Anni Evilä

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

Bjarne Udd

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

Emmanuelle Salort-Campana

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

Jean Pouget

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

Johanna Palmio

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

Michaela Auer-Grumbach

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

Nuria Muelas

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

Peter Hackman

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

Sara Lehtinen

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

P2860

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

Truncations of titin causing dilated cardiomyopathy.

Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence.

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies.

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene.

Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy.

P2888

s12035-016-0242-3

P304

7212-7223

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

P31

scholarly article

P356

10.1007/S12035-016-0242-3

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

P433

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

P478

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

P50

P577

2016-10-29T00:00:00Z

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

P6179

1038432005

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

P698

27796757

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

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

about

P2860

P2860

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P6179

P698