Monilethrix: A New Family with the Novel Mutation in KRT81 Gene (Q34281420)

1 August 2017

title

Monilethrix: A New Family with the Novel Mutation in KRT81 Gene (English)

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1 August 2017

6

Ramon Grimalt

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1 August 2017

Juan Ferrando

1

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1 August 2017

Javier Galve

2

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1 August 2017

Manoli Torres-Puente

3

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1 August 2017

Sonia Santillán

4

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1 August 2017

Susanna Nogués

5

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1 August 2017

publication date

1 January 2012

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International Journal of Trichology

1 August 2017

published in

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1 August 2017

volume

4

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1 August 2017

issue

1

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1 August 2017

page(s)

53-55

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Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

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.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

Monilethrix: a review and case report.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

De novo mutations in monilethrix

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3358948

An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22628999

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.4103/0974-7753.96105

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1 August 2017

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1 August 2017

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