Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder (Q28275108)

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31 December 2019

title

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder (English)

1 reference

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31 December 2019

author

Mauricio Arcos-Burgos

6

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31 December 2019

Simone Camargo

9

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31 December 2019

Richard Warth

14

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31 December 2019

Naohiko Anzai

23

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31 December 2019

Francois Verrey

25

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31 December 2019

1

Robert Kleta

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31 December 2019

13

Detlef Bockenhauer

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31 December 2019

author name string

Elisa Romeo

2

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31 December 2019

Zorica Ristic

3

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31 December 2019

Toshihiro Ohura

4

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31 December 2019

Caroline Stuart

5

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31 December 2019

Mital H Dave

7

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31 December 2019

Carsten A Wagner

8

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31 December 2019

Sumiko Inoue

10

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Norio Matsuura

11

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31 December 2019

Amanda Helip-Wooley

12

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31 December 2019

Isa Bernardini

15

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31 December 2019

Gepke Visser

16

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31 December 2019

Thomas Eggermann

17

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31 December 2019

Philip Lee

18

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31 December 2019

Arthit Chairoungdua

19

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31 December 2019

Promsuk Jutabha

20

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31 December 2019

Ellappan Babu

21

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31 December 2019

Sirinun Nilwarangkoon

22

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31 December 2019

Yoshikatsu Kanai

24

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31 December 2019

William A Gahl

26

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31 December 2019

Akio Koizumi

27

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language of work or name

English

0 references

publication date

1 August 2004

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31 December 2019

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31 December 2019

volume

36

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31 December 2019

page(s)

999-1002

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31 December 2019

issue

9

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Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder

31 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1038/NG1405

CATs and HATs: the SLC7 family of amino acid transporters

21 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG1405

Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features

21 April 2017

1 reference

7 January 2021

Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder

1 reference

7 January 2021

Serial microanalysis of renal transcriptomes.

1 reference

7 January 2021

Renal glucosuria due to SGLT2 mutations

1 reference

7 January 2021

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

7 January 2021

Segment-specific expression of 2P domain potassium channel genes in human nephron

1 reference

7 January 2021

Primary structure and functional characterization of a high-affinity glutamate transporter

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG1405

2 references

Consolidated OpenCitations Corpus – April 2017

1175847

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31 December 2019

1175847

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

2 references

1175847

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15286787%20AND%20SRC:MED&resulttype=core&format=json