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A Novel Missense Mutation, A118E, in the Helix Initiation Motif of the Type II Hair Cortex Keratin hHb6, Causing Monilethrix

Authors :
Pierre Vabres
Michael A. Rogers
Jürgen Schweizer
Hermelita Winter
Larrègue M
Source :
Human Heredity. 50:322-324
Publication Year :
2000
Publisher :
S. Karger AG, 2000.

Subjects

Subjects :
Male
Amino Acid Motifs
Mutation, Missense
Glutamic Acid
Biology
Hypotrichosis
Keratin
Monilethrix
Genetics
medicine
Humans
Missense mutation
Genetics (clinical)
chemistry.chemical_classification
Alanine
Infant
Hair cortex
Keratosis
medicine.disease
Pedigree
Hair disease
chemistry
Keratins
Female
Hair

Details

ISSN :
14230062 and 00015652
Volume :
50
Database :
OpenAIRE
Journal :
Human Heredity
Accession number :
edsair.doi.dedup.....16bcd710491acae25e416e79643ddaba

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