A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. - Wikidata - awgldk - TriplyDB

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

http://www.wikidata.org/entity/Q34436405

about

Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy rAAV vector-mediated sarcogylcan gene transfer in a hamster model for limb girdle muscular dystrophy Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Making sense of the limb-girdle muscular dystrophies.Limb-girdle Muscular Dystrophies in India: A Review.Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations.Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy.Occult left ventricular dysfunction diagnosed by myocardial performance index in patients with limb girdle muscle dystrophy: A case control study.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Progress and challenges in diagnosis of dysferlinopathy.Linkage Study Revealed Complex Haplotypes in a Multifamily due to Different Mutations in CAPN3 Gene in an Iranian Ethnic Group.Calpainopathy-a survey of mutations and polymorphisms.How to tackle the diagnosis of limb-girdle muscular dystrophy 2A LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.Limb-girdle muscular dystrophy type 2A in Brazilian children.

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P2860

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey.

http://www.wikidata.org/entity/Q34436405

description

1997 nî lūn-bûn

@nan

1997 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի օգոստոսին հրատարակված գիտական հոդված

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1997年の論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年論文

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1997年论文

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A biochemical, genetic, and cl ...... uscular dystrophies in Turkey.

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A biochemical, genetic, and cl ...... uscular dystrophies in Turkey.

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A biochemical, genetic, and cl ...... uscular dystrophies in Turkey.

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A biochemical, genetic, and cl ...... uscular dystrophies in Turkey.

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Akçören Z

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Beckmann JS

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Brenguier L

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Campbell KP

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Kaplan JC

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P2860

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

Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein

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

Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12

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

A comprehensive genetic map of the human genome based on 5,264 microsatellites

Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)

Population frequencies of inherited neuromuscular diseases--a world survey

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

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222-229

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10.1002/ANA.410420214

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2

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42

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