Assignment of the tibial muscular dystrophy locus to chromosome 2q31. - Wikidata - awgldk - TriplyDB

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

http://www.wikidata.org/entity/Q34384680

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Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31 Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q.Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.Clinical and genetic aspects of distal myopathies.Genetics of population isolates.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Muscle giants: molecular scaffolds in sarcomerogenesis.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.

P2860

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P2860

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

http://www.wikidata.org/entity/Q34384680

description

1998 nî lūn-bûn

@nan

1998 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի մարտին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@ast

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@en

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@nl

type

label

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@ast

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@en

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@nl

prefLabel

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@ast

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@en

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@nl

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P1433

American Journal of Human Genetics

P1476

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

@en

P2093

Haravuori H

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

Mäkelä-Bengs P

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Partanen J

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Peltonen L

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Pulkkinen L

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Somer H

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Udd B

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P2860

Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene

Titins: giant proteins in charge of muscle ultrastructure and elasticity

Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14

P304

620-626

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scholarly article

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10.1086/301752

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P433

3

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P478

62

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1998-03-01T00:00:00Z

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P5875

13735000

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P698

9497249

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P932

1376946

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