A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. (Q55065766)

16 June 2018

title

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. (English)

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16 June 2018

hypertrophic cardiomyopathy

main subject

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familial hypertrophic cardiomyopathy

inferred from title

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inferred from title

author

Hugh Christian Watkins

1

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16 June 2018

author name string

MacRae C

2

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Thierfelder L

3

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Chou YH

4

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Frenneaux M

5

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McKenna W

6

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Seidman JG

7

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Seidman CE

8

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publication date

1 April 1993

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language of work or name

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volume

3

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issue

4

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page(s)

333-337

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Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1).

cites work

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Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

21 January 2018

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

21 January 2018

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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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

Developmental expression of troponin I isoforms in fetal human heart

21 January 2018

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Troponin I isoform expression in human heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

7 January 2021

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

7 January 2021

Exclusion of cardiac myosin heavy chain and actin gene involvement in hypertrophic cardiomyopathy of several French families

1 reference

https://api.crossref.org/works/10.1038%2FNG0493-333

7 January 2021

Localization of the gene coding for ventricular myosin regulatory light chain (MYL2) to human chromosome 12q23-q24.3

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7 January 2021

Localization of the coagulation factor XIII B subunit gene (F13B) to chromosome bands 1q31-32.1 and restriction fragment length polymorphism at the locus

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7 January 2021

Report of the committee on the genetic constitution of chromosome 14.

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7 January 2021

The CEPH consortium linkage map of human chromosome 1

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7 January 2021

Integration of gene maps: chromosome 1

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7 January 2021

Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups

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7 January 2021

Chromosomal location of the co-expressed human skeletal and cardiac actin genes

1 reference

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7 January 2021

Skeletal actin mRNA increases in the human heart during ontogenic development and is the major isoform of control and failing adult hearts

1 reference

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7 January 2021

Tissue-specific expression of the human tropomyosin gene involved in the generation of the trk oncogene

1 reference

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7 January 2021

cDNA sequence, tissue-specific expression, and chromosomal mapping of the human slow-twitch skeletal muscle isoform of troponin I

1 reference

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7 January 2021

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

1 reference

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7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

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7 January 2021

Nonparametric Estimation from Incomplete Observations

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0493-333

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16 June 2018

Dimensions publication ID

1017501308

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16 June 2018