A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.
about
Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1Cystinuria: an inborn cause of urolithiasisCalmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain FunctionPREPL: a putative novel oligopeptidase propelled into the limelight.Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndromeHuman calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.Mitochondriopathies.Identification of disease genes by whole genome CGH arrays.Role of type 2C protein phosphatases in growth regulation and in cellular stress signaling.Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.Hypogonadism and neurological diseases.Mining for mitochondrial mechanisms: linking known syndromes to mitochondrial function.Calmodulin-mediated signal transduction pathways in Arabidopsis are fine-tuned by methylation.Genomic disorders 20 years on-mechanisms for clinical manifestations.Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.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
P2860
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P2860
A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease.
description
2001 nî lūn-bûn
@nan
2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A recessive contiguous gene de ...... ia and a mitochondrial disease
@nl
A recessive contiguous gene de ...... a and a mitochondrial disease.
@ast
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en-gb
type
label
A recessive contiguous gene de ...... ia and a mitochondrial disease
@nl
A recessive contiguous gene de ...... a and a mitochondrial disease.
@ast
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en-gb
prefLabel
A recessive contiguous gene de ...... ia and a mitochondrial disease
@nl
A recessive contiguous gene de ...... a and a mitochondrial disease.
@ast
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en-gb
P2093
P2860
P356
P1476
A recessive contiguous gene de ...... a and a mitochondrial disease.
@en
P2093
P2860
P304
P356
10.1086/323624
P407
P577
2001-08-24T00:00:00Z