(Q41341431)

English

A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy

scientific article published on November 1996

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scholarly article

1 reference

Europe PubMed Central

29 September 2017

A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy (English)

1 reference

Europe PubMed Central

29 September 2017

author name string

Cuda G

1

1 reference

Europe PubMed Central

29 September 2017

Perrotti N

2

1 reference

Europe PubMed Central

29 September 2017

Perticone F

3

1 reference

Europe PubMed Central

29 September 2017

Mattioli PL

4

1 reference

Europe PubMed Central

29 September 2017

language of work or name

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publication date

1 November 1996

1 reference

Europe PubMed Central

29 September 2017

1 reference

Europe PubMed Central

29 September 2017

76

1 reference

Europe PubMed Central

29 September 2017

5

1 reference

Europe PubMed Central

29 September 2017

451-452

1 reference

Europe PubMed Central

29 September 2017

Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=484582

1 October 2017

Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8944596

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/HRT.76.5.451

1 reference

Europe PubMed Central

29 September 2017

1 reference

Europe PubMed Central

29 September 2017

1 reference

Europe PubMed Central

29 September 2017

ResearchGate publication ID

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