(Q50537181)

15 March 2018

reason for preferred rank

title

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

1 reference

23 November 2023

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

0 references

1 reference

1 reference

1 reference

23 November 2023

author name string

van de Kamp JJ

7

1 reference

15 March 2018

J. M. van den Ouweland

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

H. H. Lemkes

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

W. Ruitenbeek

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

L. A. Sandkuijl

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

M. F. de Vijlder

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

P. A. Struyvenberg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

J. J. van de Kamp

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

J. A. Maassen

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1284550

23 November 2023

language of work or name

English

0 references

publication date

1 August 1992

1 reference

15 March 2018

full work available at URL

http://www.nature.com/articles/ng0892-368

1 reference

http://www.nature.com/articles/ng0892-368.pdf

23 November 2023

file format

Portable Document Format

1 reference

23 November 2023

1 reference

15 March 2018

volume

1

1 reference

15 March 2018

issue

5

1 reference

15 March 2018

page(s)

368-371

1 reference

15 March 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

Diabetes in identical twins. A study of 200 pairs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Lilly lecture 1990. Molecular defects in diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Normal insulin-receptor cDNA sequence in Pima Indians with NIDDM

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

The amino acid sequence of the insulin receptor is normal in an insulin-resistant Pima Indian

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Individuals with only one allele for a functional insulin receptor have a tendency to hyperinsulinaemia but not to hyperglycaemia

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Analysis of the gene sequences of the insulin receptor and the insulin-sensitive glucose transporter (GLUT-4) in patients with common-type non-insulin-dependent diabetes mellitus

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Importance of maternal history of non-insulin dependent diabetic patients

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Risk factors for NIDDM in white population. Paris prospective study

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

A rare mitochondrial DNA BstNI polymorphism in a family with type II diabetes

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Sequence and organization of the human mitochondrial genome

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Mitochondrial leucine tRNA mutation in neurological diseases

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

MELAS: clinical features, biochemistry, and molecular genetics

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q.

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

1 reference

https://api.crossref.org/works/10.1038%2FNG0892-368

7 January 2021

Identifiers

DOI

10.1038/NG0892-368

1 reference

15 March 2018

1 reference

15 March 2018