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Article

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

Journal of medical genetics - 1 Mar 2005

van Steensel M A M, Steijlen P M, Bladergroen R S, Vermeer M, van Geel M

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Share to Alopecia
Share to Child, Preschool
Share to DNA Mutational Analysis
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heterozygote

Share to Keratins

Share to Mutation, Missense

Share to Polymorphism, Genetic

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Identifiers

PMID: 15744029
DOI: 10.1136/jmg.2004.021030
PMCID: PMC1736019

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix.PMID 15744029Read ↗

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.Semantic proximity Read ↗

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

De novo mutations in monilethrix.Semantic proximity Read ↗

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

Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.Semantic proximity Read ↗

Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.Semantic proximity Read ↗

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

[Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].Semantic proximity Read ↗

Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.Semantic proximity Read ↗

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

A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.Semantic proximity Read ↗

Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.Semantic proximity Read ↗

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