Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins (Q24680877)

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P Dinçer

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C Roudaut

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B Bady

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J M Burgunder

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R Chemaly

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C A Garcia

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G Halaby

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C E Jackson

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D M Kurnit

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G Lefranc

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C Legum

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J Loiselet

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L Merlini

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A Nivelon-Chevallier

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E Ollagnon-Roman

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G Restagno

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H Topaloglu

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J S Beckmann

American Journal of Human Genetics

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language of work or name

English

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publication date

May 1997

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published in

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volume

60

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issue

5

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page(s)

1128-38

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cites work

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

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Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families

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

7 April 2017

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Human adhalin is alternatively spliced and the gene is located on chromosome 17q21

7 April 2017

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

7 April 2017

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Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity

7 April 2017

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β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

7 April 2017

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Molecular cloning of a novel mammalian calcium-dependent protease distinct from both m- and mu-types. Specific expression of the mRNA in skeletal muscle

7 April 2017

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

7 April 2017

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7 April 2017

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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

28 September 2017

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

7 April 2017

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Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

7 April 2017

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

7 April 2017

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The CpG dinucleotide and human genetic disease

7 April 2017

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Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy

7 April 2017

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

7 April 2017

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Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island

7 April 2017

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Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy.

28 September 2017

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Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval

28 September 2017

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Illegitimate transcription: transcription of any gene in any cell type

28 September 2017

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Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

28 September 2017

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On the classification, natural history and treatment of the myopathies.

28 September 2017

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How neutral are synonymous codon mutations?

28 November 2018

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The limb-girdle muscular dystrophies--proposal for a new nomenclature.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712426

Sequence comparison among muscle-specific calpain, p94, and calpain subunits

28 November 2018

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12 December 2020

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

1 reference

12 December 2020

A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage

1 reference

12 December 2020

Confirmation of the 2p Locus for the Mild Autosomal Recessive Limb-Girdle Muscular Dystrophy Gene (LGMD2B) in Three Families Allows Refinement of the Candidate Region

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12 December 2020

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

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12 December 2020

Progressive muscular dystrophy: autosomal recessive type

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12 December 2020