Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database (Q34576269)

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10 February 2020

title

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

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10 February 2020

2

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10 February 2020

Ligia Almeida

3

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10 February 2020

7

Omar Abdul-Rahman

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10 February 2020

4

Tjitske Kleefstra

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10 February 2020

author name string

Ofir T Betsalel

1

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10 February 2020

Charles E Schwartz

5

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10 February 2020

Nicola Poplawski

8

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10 February 2020

Laura Vilarinho

9

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10 February 2020

Philipp Wolf

10

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10 February 2020

Johan T den Dunnen

11

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10 February 2020

Cornelis Jakobs

12

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10 February 2020

Gajja S Salomons

13

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10 February 2020

Vassili Valayannopoulos

6

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10 February 2020

publication date

18 August 2010

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European Journal of Human Genetics

10 February 2020

published in

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10 February 2020

volume

19

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10 February 2020

issue

1

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10 February 2020

page(s)

56-63

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Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

7 July 2018

1 reference

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X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

High prevalence of SLC6A8 deficiency in X-linked mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

Improved splice site detection in Genie

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

Prediction of complete gene structures in human genomic DNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

X-linked creatine transporter deficiency presenting as a mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

The consequences of extended newborn screening programmes: do we know who needs treatment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.134

Clinical features and X-inactivation in females heterozygous for creatine transporter defect.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039501

27 October 2018

Identifiers

DOI

10.1038/EJHG.2010.134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20717164%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

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10 February 2020

PubMed publication ID

20717164

1 reference