De novo mutations in monilethrix (Q44721678)

5 December 2017

title

De novo mutations in monilethrix (English)

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5 December 2017

4

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5 December 2017

Liran Horev

1

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5 December 2017

Karima Djabali

2

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5 December 2017

Jack Green

3

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5 December 2017

Amalia Martinez-Mir

5

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5 December 2017

Arieh Ingber

6

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5 December 2017

Angela M Christiano

7

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5 December 2017

Abraham Zlotogorski

8

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5 December 2017

publication date

1 December 2003

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5 December 2017

published in

Experimental Dermatology

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5 December 2017

volume

12

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5 December 2017

issue

6

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5 December 2017

page(s)

882-885

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

5 December 2017

cites work

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https://api.crossref.org/works/10.1111/J.0906-6705.2003.00022.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.0906-6705.2003.00022.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/J.0906-6705.2003.00022.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/J.0906-6705.2003.00022.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/J.0906-6705.2003.00022.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/J.0906-6705.2003.00022.X

Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.0906-6705.2003.00022.X

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.0906-6705.2003.00022.X

Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.0906-6705.2003.00022.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/J.0906-6705.2003.00022.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/J.0906-6705.2003.00022.X

Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.0906-6705.2003.00022.X

10.1111/J.0906-6705.2003.00022.X

21 January 2018

Identifiers

DOI

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5 December 2017

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