(Q49167995)

18 February 2018

title

Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. (English)

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18 February 2018

author

Marco Zaffanello

4

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author name string

Kevin Martens

1

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18 February 2018

Inge Heulens

2

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Sandra Meulemans

3

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David Tilstra

5

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Frederik J Hes

6

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Raoul Rooman

7

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18 February 2018

Inge François

8

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18 February 2018

Francis de Zegher

9

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Jaak Jaeken

10

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18 February 2018

Gert Matthijs

11

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18 February 2018

John W M Creemers

12

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18 February 2018

publication date

20 June 2007

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18 February 2018

European Journal of Human Genetics

published in

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18 February 2018

volume

15

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18 February 2018

issue

10

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18 February 2018

page(s)

1029-1033

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201881

exact match

0 references

cites work

Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

The 2p21 deletion syndrome: characterization of the transcription content

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

PREPL: a putative novel oligopeptidase propelled into the limelight

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

A sporadic case of cystinuria, respiratory chain and growth hormone deficiencies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

The caregene study: muscle-specific creatine kinase gene and aerobic power in coronary artery disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201881

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5201881

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18 February 2018

PubMed ID

17579669

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18 February 2018