(Q37058026)

18 August 2017

Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes (English)

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18 August 2017

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M Hashim Raza

1

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18 August 2017

Carlos E F Domingues

2

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18 August 2017

Ronald Webster

3

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18 August 2017

Eduardo Sainz

4

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18 August 2017

Emily Paris

5

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18 August 2017

Rachel Rahn

6

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18 August 2017

Joanne Gutierrez

7

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18 August 2017

Ho Ming Chow

8

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18 August 2017

Jennifer Mundorff

9

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18 August 2017

Chang-Soo Kang

10

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18 August 2017

Naveeda Riaz

11

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18 August 2017

Muhammad A R Basra

12

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18 August 2017

Shaheen Khan

13

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18 August 2017

Sheikh Riazuddin

14

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18 August 2017

Danilo Moretti-Ferreira

15

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18 August 2017

Allen Braun

16

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18 August 2017

Dennis Drayna

17

1 reference

18 August 2017

1 July 2015

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European Journal of Human Genetics

18 August 2017

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18 August 2017

24

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18 August 2017

4

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18 August 2017

529-534

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https://scigraph.springernature.com/pub.10.1038/ejhg.2015.154

18 August 2017

0 references

cites work

The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha / beta -subunits precursor gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Finding susceptibility genes for developmental disorders of speech: the long and winding road

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Genetics of stuttering: a critical review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Heritability and environmental effects for self-reported periods with stuttering: a twin study from Denmark.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

Genetic and environmental influences on stuttering and tics in Japanese twin children.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4929873

4 September 2018

Genetics of Stuttering

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.154

Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase α/β subunits in Korean patients with mucolipidosis type II or type IIIA

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2015.154

21 January 2018

Identifiers

DOI

10.1038/EJHG.2015.154

1 reference

release_5eibdjgt4feydl3xsz24yyuzda

18 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/5eibdjgt4feydl3xsz24yyuzda

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

18 August 2017

1 reference