(Q33682328)

English

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness (English)

1 reference

Europe PubMed Central

28 July 2017

hypertrophic cardiomyopathy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

6

object named as

Munnich A

1 reference

Europe PubMed Central

28 July 2017

author name string

Manouvrier S

1

1 reference

Europe PubMed Central

28 July 2017

Rötig A

2

1 reference

Europe PubMed Central

28 July 2017

Hannebique G

3

1 reference

Europe PubMed Central

28 July 2017

Gheerbrandt JD

4

1 reference

Europe PubMed Central

28 July 2017

Royer-Legrain G

5

1 reference

Europe PubMed Central

28 July 2017

Parent M

7

1 reference

Europe PubMed Central

28 July 2017

Grünfeld JP

8

1 reference

Europe PubMed Central

28 July 2017

Largilliere C

9

1 reference

Europe PubMed Central

28 July 2017

Lombes A

10

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 August 1995

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

32

1 reference

Europe PubMed Central

28 July 2017

654-656

1 reference

Europe PubMed Central

28 July 2017

8

1 reference

Europe PubMed Central

28 July 2017

Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

A new point mutation associated with mitochondrial encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

Diseases resulting from mitochondrial DNA point mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051645

21 June 2018

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7473662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congestive heart failure in mitochondrial diabetes mellitus

1 reference

https://pubmed.ncbi.nlm.nih.gov/7473662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial encephalomyopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/7473662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/7473662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.32.8.654

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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0 references

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