S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

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S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

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S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

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S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

@en

S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

@nl

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S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

@en

S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

@nl

P1476

S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy.

@en

P2093

Chao Xu

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

Fang Yan

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

Hongyu Li

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

Hui Ying

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

Jing Chen

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Wenbo Wang

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P2860

Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p

Adrenoleukodystrophy: subcellular localization and degradation of adrenoleukodystrophy protein (ALDP/ABCD1) with naturally occurring missense mutations

Identification of a fourth half ABC transporter in the human peroxisomal membrane

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein

The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis

A method and server for predicting damaging missense mutations

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations

Mutational analysis of patients with X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

P304

87529-87538

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P31

scholarly article

P356

10.18632/ONCOTARGET.20974

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P407

English

P433

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

P478

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

P577

2017-09-18T00:00:00Z

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P698

29152099

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P932

5675651

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