(Q35195188)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

title

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

28 October 2019

main subject

1 reference

based on heuristic

inferred from title

author

Hugh Christian Watkins

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

7

J G Seidman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

author name string

L Thierfelder

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

R Anan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

J Jarcho

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

A Matsumori

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

W McKenna

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

C E Seidman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

language of work or name

English

0 references

publication date

1 December 1993

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

page(s)

1180-1185

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene

28 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

The CpG dinucleotide and human genetic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Localization of gene for familial hypertrophic cardiomyopathy to chromosome 14q1 in a diverse US population

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Dinucleotide repeat polymorphism at the human cardiac beta-myosin gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682496

Functions of the myosin ATP and actin binding sites are required for C. elegans thick filament assembly

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8250038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8250038

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8250038%20AND%20SRC:MED&resulttype=core&format=json

28 October 2019

1 reference