(Q24673261)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

Mutations in the SLC3A1 transporter gene in cystinuria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

author name string

Pras E

1

1 reference

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20 October 2019

Raben N

2

1 reference

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20 October 2019

Golomb E

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Arber N

4

1 reference

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20 October 2019

Aksentijevich I

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

Schapiro JM

6

1 reference

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20 October 2019

Harel D

7

1 reference

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20 October 2019

Katz G

8

1 reference

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20 October 2019

Liberman U

9

1 reference

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20 October 2019

Pras M

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

language of work or name

English

0 references

publication date

1 June 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

20 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

volume

56

1 reference

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20 October 2019

issue

6

1 reference

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20 October 2019

page(s)

1297-1303

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport

20 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=1801089

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Expression cloning of a human renal cDNA that induces high affinity transport of L-cystine shared with dibasic amino acids in Xenopus oocytes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Cloning of a rat kidney cDNA that stimulates dibasic and neutral amino acid transport and has sequence similarity to glucosidases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

The 12-transmembrane helix transporters

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Human neutral amino acid transporter ASCT1: structure of the gene (SLC1A4) and localization to chromosome 2p13-p15.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Cystinuria: biochemical evidence for three genetically distinct diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Rapid transfer of DNA from agarose gels to nylon membranes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Illegitimate transcription: transcription of any gene in any cell type

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Stimulation of system y(+)-like amino acid transport by the heavy chain of human 4F2 surface antigen in Xenopus laevis oocytes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Expression cloning of a cDNA from rabbit kidney cortex that induces a single transport system for cystine and dibasic and neutral amino acids

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801089

Jewish diseases and origins

28 September 2017

1 reference

12 December 2020

A simple thin layer chromatography screening test for the detection of hyperaminoacidemias

1 reference

12 December 2020

Massachusetts metabolic disorders screening program. I. Technics and results of urine screening

1 reference

12 December 2020

Clinical features and management of cystinuria

1 reference

12 December 2020

Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes

1 reference

12 December 2020

Localization of a gene causing cystinuria to chromosome 2p

1 reference

12 December 2020

Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization

1 reference

12 December 2020

Genetic heterogeneity in cystinuria: evidence for allelism

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7539209%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

1 reference