Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

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http://www.wikidata.org/entity/Q42428336

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年論文

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2017年论文

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2017年论文

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2017年论文

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name

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

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Item

label

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

@en

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

@nl

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

@en

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

@nl

P1476

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

@en

P2093

Gwang-Jin Kim

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Hamida Turki

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

Ingrid Hausser

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

Judith Fischer

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

Julie Christiansen

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

Lisa Heinz

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

Slaheddine Marrakchi

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

P2860

Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay

Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene

Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Different subcellular localization of sulphotransferase 2B1b in human placenta and prostate

Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis

Characterization and expression of hepatic sulfotransferase involved in the metabolism of N-substituted aryl compounds

Ichthyosis with confetti: clinics, molecular genetics and management

Nonsyndromic types of ichthyoses - an update

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926-939

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scholarly article

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10.1016/J.AJHG.2017.05.007

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English

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100

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P50

Andreas Zimmer

Marc-Alexander Rauschendorf

Mark Lathrop

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2017-06-01T00:00:00Z

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28575648

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P921

Sulfotransferase family 2B member 1

positive regulation of epidermal cell differentiation

autosomal recessive congenital ichthyosis

birth defect

P932

5473727

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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

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P248

Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

description

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type

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P1433

P1476

P2093

P2860

P304

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P356

P407

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P577

P698

P921

P932

P356

P1433

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P2860

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P356

P407

P433

P478

P50

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P698

P921

P932