Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D) (Q24517929)

2 July 2017

Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D) (English)

1 reference

autosomal recessive limb-girdle muscular dystrophy type 2D

2 July 2017

1 reference

1 reference

6

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author name string

Carrié A

1

1 reference

2 July 2017

Piccolo F

2

1 reference

2 July 2017

Leturcq F

3

1 reference

2 July 2017

de Toma C

4

1 reference

2 July 2017

Azibi K

5

1 reference

2 July 2017

Beldjord C

6

1 reference

2 July 2017

Vallat JM

7

1 reference

2 July 2017

Merlini L

8

1 reference

2 July 2017

Voit T

9

1 reference

2 July 2017

Sewry C

10

1 reference

2 July 2017

Urtizberea JA

11

1 reference

2 July 2017

Romero N

12

1 reference

2 July 2017

Tomé FM

13

1 reference

2 July 2017

Fardeau M

14

1 reference

2 July 2017

Sunada Y

15

1 reference

2 July 2017

Campbell KP

16

1 reference

2 July 2017

Kaplan JC

17

1 reference

2 July 2017

Jeanpierre M

18

1 reference

2 July 2017

language of work or name

English

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publication date

1 June 1997

1 reference

Journal of Medical Genetics

2 July 2017

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2 July 2017

34

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2 July 2017

6

1 reference

2 July 2017

470-475

1 reference

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

2 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Primary structure and muscle-specific expression of the 50-kDa dystrophin-associated glycoprotein (adhalin)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Membrane organization of the dystrophin-glycoprotein complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Genetic heterogeneity for Duchenne-like muscular dystrophy (DLMD) based on linkage and 50 DAG analysis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Complete and tissue-independent methylation of CpG sites in the p53 gene: implications for mutations in human cancers.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

A paternal wash in Apert syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050969

Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy

29 November 2018

1 reference

12 December 2020

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

12 December 2020

Heterogeneity of dystrophin-associated proteins

1 reference

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

Use of chemical clamps in denaturing gradient gel electrophoresis: application in the detection of the most frequent Mediterranean beta-thalassemic mutations

1 reference

12 December 2020

Deficiency of the 50 kDa dystrophin associated glycoprotein (adhalin) in severe autosomal recessive muscular dystrophies in children native from European countries

1 reference

12 December 2020

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency

1 reference

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1136%2FJMG.34.6.470

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1136/JMG.34.6.470

1 reference

2 July 2017

0 references

1 reference