Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

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Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

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http://www.wikidata.org/entity/Q53072754

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

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Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@en

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@nl

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Item

label

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@en

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@nl

prefLabel

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@en

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@nl

P1476

Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis.

@en

P2093

H Xie

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

J Guo

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

L Li

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

R Peng

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

Y Xie

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

Y Zhu

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P2860

Enrichment of sequencing targets from the human genome by solution hybridization

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.

ABCA12 is the major harlequin ichthyosis gene

Target-enrichment strategies for next-generation sequencing.

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.

Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases.

Recent advances in the genetics and management of harlequin ichthyosis.

P304

636-639

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P31

scholarly article

P356

10.1111/CED.12861

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P433

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

P478

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

P577

2016-07-06T00:00:00Z

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P698

27381714

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