(Q50771299)

18 March 2018

title

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants. (English)

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18 March 2018

Efraim H Rosenberg

3

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author name string

Ofir T Betsalel

1

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18 March 2018

Ana Pop

2

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18 March 2018

Matilde Fernandez-Ojeda

4

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18 March 2018

Creatine Transporter Research, Group

5

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18 March 2018

Cornelis Jakobs

6

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18 March 2018

Gajja S Salomons

7

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18 March 2018

publication date

6 January 2012

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18 March 2018

Molecular Genetics and Metabolism

published in

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18 March 2018

volume

105

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18 March 2018

issue

4

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18 March 2018

page(s)

596-601

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18 March 2018

Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8.

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1 reference

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Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

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X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

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A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transporters

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Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

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X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism.

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Identifiers

DOI

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18 March 2018

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18 March 2018