(Q28201814)

English

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families

scientific article (publication date: 20 February 2002)

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scholarly article

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New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families (English)

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Infantile convulsions and choreoathetosis

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Choreoathetosis

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Andrée Robaglia-Schlupp

4

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Annick Massacrier

2

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Pierre Szepetowski

6

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5

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object named as

Patrice Roll

1

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ORCID Public Data File 2021

author name string

Sandrine Pereira

3

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language of work or name

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publication date

20 February 2002

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285

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141-8

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1-2

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A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16

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https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Channelopathies: ion channel defects linked to heritable clinical disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression cloning and cDNA sequencing of the Na+/glucose co-transporter

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https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

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cDNA sequence for rkST1, a novel member of the sodium ion-dependent glucose cotransporter family.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

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Calcium channelopathies in the central nervous system

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https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

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Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

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Five transmembrane helices form the sugar pathway through the Na+/glucose cotransporter

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Neutralization of a conserved amino acid residue in the human Na+/glucose transporter (hSGLT1) generates a glucose-gated H+ channel

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

An improved PCR method for walking in uncloned genomic DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Ion channels and epilepsy in man and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

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Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Membrane topology motifs in the SGLT cotransporter family

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Membrane topology of the human Na+/glucose cotransporter SGLT1

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurological diseases caused by ion-channel mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0378-1119%2802%2900416-X

7 January 2021

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Identifiers

10.1016/S0378-1119(02)00416-X

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release_jaovljqpmjatnnxxlbpfey6fg4

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https://api.fatcat.wiki/v0/release/jaovljqpmjatnnxxlbpfey6fg4

24 November 2022

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mapped directly with Wikidata item

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