Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria (Q24563071)

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21 October 2019

title

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria (English)

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21 October 2019

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3

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21 October 2019

Luisa de Sanctis

5

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Xavier Estivill i Pallejà

21 October 2019

10

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author name string

M J Calonge

1

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21 October 2019

V Volpini

2

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21 October 2019

F Rousaud

4

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21 October 2019

E Beccia

6

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21 October 2019

L Zelante

7

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21 October 2019

X Testar

8

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21 October 2019

A Zorzano

9

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21 October 2019

language of work or name

English

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publication date

1 October 1995

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Proceedings of the National Academy of Sciences of the United States of America

21 October 2019

published in

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21 October 2019

volume

92

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21 October 2019

issue

21

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21 October 2019

page(s)

9667-9671

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

21 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=40863

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=40863

Mutations in the SLC3A1 transporter gene in cystinuria

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Opposite directed currents induced by the transport of dibasic and neutral amino acids in Xenopus oocytes expressing the protein rBAT

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Ultrastructural localization of a neutral and basic amino acid transporter in rat kidney and intestine

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Characterization of the promoter region of the gene for the rat neutral and basic amino acid transporter and chromosomal localization of the human gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

A new family of proteins (rBAT and 4F2hc) involved in cationic and zwitterionic amino acid transport: a tale of two proteins in search of a transport function.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Cystinuria: biochemical evidence for three genetically distinct diseases

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Balanced translocation (14;20) in a mentally handicapped child with cystinuria

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Cystinuria genotypes predicted from excretion patterns

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=40863

Intestinal Absorption and Renal Extraction of Cystine and Cysteine in Cystinuria

28 November 2018

1 reference

12 December 2020

Genetic heterogeneity in cystinuria: evidence for allelism

1 reference

12 December 2020

Rapid assay for amino acids in serum or urine by pre-column derivatization and reversed-phase liquid chromatography

1 reference

12 December 2020

Prospective analysis and classification of patients with cystinuria identified in a newborn screening program

1 reference

12 December 2020

Localization of a gene causing cystinuria to chromosome 2p

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.92.21.9667

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7568194%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

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release_pdim2pfaxba6rodyyptkillpye

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Fatcat

https://api.fatcat.wiki/v0/release/pdim2pfaxba6rodyyptkillpye

24 November 2022

mapped directly with Wikidata item

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21 October 2019

PubMed publication ID

7568194

1 reference