(Q50495321)

14 March 2018

title

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance. (English)

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14 March 2018

author

Rodney Sinclair

7

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author name string

R De Cruz

1

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L Horev

2

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J Green

3

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S Babay

4

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M Sladden

5

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14 March 2018

A Zlotogorski

6

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language of work or name

English

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publication date

1 June 2012

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14 March 2018

British Journal of Dermatology

published in

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14 March 2018

volume

166 Suppl 2

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page(s)

20-26

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14 March 2018

Endocrine controls of keratin expression

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

The Molecular Genetics of Keratin Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

De novo mutations in monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2012.10861.X

10.1111/J.1365-2133.2012.10861.X

21 January 2018

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018