Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

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Functional analysis and molecular characterization of spontaneously outgrown human lymphoblastoid cell lines.

P2860

Q38974233-49696B61-852B-4192-BDEF-A86D3E8D50ED

P2860

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

Item

http://www.wikidata.org/entity/Q41881694

description

2011 nî lūn-bûn

@nan

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

2011年论文

@zh

2011年论文

@zh-cn

name

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

@en

type

Item

label

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

@en

prefLabel

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

@en

P1476

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

@en

P2093

Hendrik Rosewich

http://www.w3.org/2001/XMLSchema#string

Jutta Gärtner

http://www.w3.org/2001/XMLSchema#string

Ralph Krätzner

http://www.w3.org/2001/XMLSchema#string

Sabine Grønborg

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P2860

Characterization of PECI, a novel monofunctional Delta(3), Delta(2)-enoyl-CoA isomerase of mammalian peroxisomes

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for stability of the PTS1 receptor

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

Peroxisome biogenesis disorders

Peroxisomal multifunctional protein-2: the enzyme, the patients and the knockout mouse model

Peroxisomal disorders: the single peroxisomal enzyme deficiencies

The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum

Rational diagnostic strategy for Zellweger syndrome spectrum patients

Oxidative imbalance in nonstimulated X-adrenoleukodystrophy-derived lymphoblasts

P304

29-36

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1007/8904_2011_12

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2011-06-22T00:00:00Z

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P698

23430824

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P932

3509813

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Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

about

P2860

P2860

Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P577

P698

P932