Novel KRT83 and KRT86 mutations associated with monilethrix.

P2860

Novel KRT83 and KRT86 mutations associated with monilethrix.

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http://www.wikidata.org/entity/Q50609840

description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年學術文章

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name

Novel KRT83 and KRT86 mutations associated with monilethrix.

@en

Novel KRT83 and KRT86 mutations associated with monilethrix.

@nl

type

Item

label

Novel KRT83 and KRT86 mutations associated with monilethrix.

@en

Novel KRT83 and KRT86 mutations associated with monilethrix.

@nl

prefLabel

Novel KRT83 and KRT86 mutations associated with monilethrix.

@en

Novel KRT83 and KRT86 mutations associated with monilethrix.

@nl

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EXD.12624

P1433

Experimental Dermatology

P1476

Novel KRT83 and KRT86 mutations associated with monilethrix

@en

P2093

Fanny Morice-Picard

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

Maaike Vreeburg

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

Maria T Urbina

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

Michel van Geel

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

Paul López

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

P2860

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.

The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle.

The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins.

Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.

The genetic basis of pachyonychia congenita.

De novo mutations in monilethrix.

A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

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222-224

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scholarly article

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10.1111/EXD.12624

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Maurice van Steensel

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2015-03-01T00:00:00Z

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269691101

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25557232

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