Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome. - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q49167995

about

Nephrolithiasis related to inborn metabolic diseases Cystinuria: an inborn cause of urolithiasis Deletion of PREPl causes growth impairment and hypotonia in mice PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome A substrate-free activity-based protein profiling screen for the discovery of selective PREPL inhibitors.Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.When to suspect a genetic disorder in a patient with renal stones, and why.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.Clinical utility gene card for: Cystinuria.Chromosomal microdeletions and genes' functions: a cluster of chromosomal microdeletions and the deleted genes' functions.Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria

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P2860

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

http://www.wikidata.org/entity/Q49167995

description

2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年學術文章

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2007年學術文章

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name

Global distribution of the mos ...... hypotonia-cystinuria syndrome.

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Global distribution of the mos ...... hypotonia-cystinuria syndrome.

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type

label

Global distribution of the mos ...... hypotonia-cystinuria syndrome.

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Global distribution of the mos ...... hypotonia-cystinuria syndrome.

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Global distribution of the mos ...... hypotonia-cystinuria syndrome.

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Global distribution of the mos ...... hypotonia-cystinuria syndrome.

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SJ.EJHG.5201881

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European Journal of Human Genetics

P1476

Global distribution of the mos ...... hypotonia-cystinuria syndrome.

@en

P2093

David Tilstra

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Francis de Zegher

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Frederik J Hes

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Gert Matthijs

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Inge François

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Inge Heulens

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Jaak Jaeken

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John W M Creemers

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Kevin Martens

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Raoul Rooman

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P2860

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

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

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

PREPL: a putative novel oligopeptidase propelled into the limelight.

The 2p21 deletion syndrome: characterization of the transcription content.

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

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

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

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

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

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2007-06-20T00:00:00Z

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