A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

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Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin.

P2860

Q41428408-FEF7A067-1306-4E39-83D6-D217CF65C532

P2860

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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name

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

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A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

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Item

label

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

@en

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

@nl

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A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

@en

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

@nl

P1476

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

@en

P2093

Antoni Azón

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

Cristina Hurtado

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

Francesc Paris

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P2860

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

Keratin K6c mutations cause focal palmoplantar keratoderma

Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations

Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

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838-839

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scholarly article

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10.1111/EXD.12262

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P433

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

P478

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

P50

José Luis Vizmanos

Leyre Aguado

P577

2013-12-01T00:00:00Z

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P5875

257751559

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P698

24118415

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A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

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P2860

P2860

A new KRT16 mutation associated with a phenotype of pachyonychia congenita.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P5875

P698