(Q24533422)

4 July 2017

0 references

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease (English)

1 reference

4 July 2017

main subject

mitochondrial disease

1 reference

E Hershkovitz

6

E

Hershkovitz

1 reference

PubMed

20 October 2023

R Parvari

1

R

Parvari

1 reference

4 July 2017

I Brodyansky

2

I

Brodyansky

1 reference

4 July 2017

O Elpeleg

3

O

Elpeleg

1 reference

4 July 2017

S Moses

4

S

Moses

1 reference

4 July 2017

D Landau

5

D

Landau

1 reference

4 July 2017

language of work or name

English

0 references

publication date

24 August 2001

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

69

1 reference

4 July 2017

issue

4

1 reference

4 July 2017

page(s)

869-875

1 reference

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

The cloning expression and tissue distribution of human PP2Cbeta

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Dephosphorylation of human cyclin-dependent kinases by protein phosphatase type 2C alpha and beta 2 isoforms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Cystinuria and its treatment: 25 years experience at St. Bartholomew's Hospital

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Cystinuria and mental deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Clinical manifestations of mitochondrial DNA depletion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226072

Localization of a gene causing cystinuria to chromosome 2p

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11524703

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic organization of SLC3A1, a transporter gene mutated in cystinuria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11524703

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/323624

1 reference

release_qejmts2mbbar3e6pawgrqcg4by

4 July 2017

Fatcat ID

0 references

PMC publication ID

1226072

1 reference

4 July 2017

1 reference