Hum Hered 2000;50:322–324
(DOI:10.1159/000022936)

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

Winter H.a · Vabres P.b · Larrègue M.b · Rogers M.A.a · Schweizer J.a
aGerman Cancer Research Center, Heidelberg, Germany, and bDepartment of Dermatology, University Hospital Center, Poitiers, France
email Corresponding Author


 goto top of outline Key Words

  • Keratin
  • Helix initiation motif
  • Mutation
  • Hair disease

 goto top of outline References
  1. Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J: Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nature Genet 1997;16:372–374.
  2. Parry DAD, Steinert PM: IF Pathology: Molecular Consequences of Rod and End Domain Mutations; in Parry DAD, Steinert PM (eds): Intermediate Filament Structure, Molecular Biology Intelligence Unit. R.G. Landers Company Austin, Texas, Springer, New York, 1995, pp 145–175.
  3. Winter H, Clark RD, Tarras-Wahlberg C, Rogers MA, Schweizer J: 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. J Invest Dermatol 1999;113:263–266.

 goto top of outline Author Contacts

Dr. Hermelita Winter
German Cancer Research Center, Research Program 2
Im Neuenheimerfeld 280
D–69120 Heidelberg (Germany)
Tel. +49 6221 423 248, Fax +49 6221 422 995, E-Mail m.rogers@dkfz-heidelberg.de


 goto top of outline Article Information

Received: Received: April 29, 1999
Accepted: May 19, 1999
Number of Print Pages : 3
Number of Figures : 2, Number of Tables : 0, Number of References : 3


 goto top of outline Publication Details

Human Heredity (International Journal of Human and Medical Genetics)
Founded 1950 as Acta Genetica et Statistica Medica by Gunnar Dahlberg; Continued by M. Hauge (1965–1983)

Vol. 50, No. 5, Year 2000 (Cover Date: September-October 2000 (Released June 2000))

Journal Editor: J. Ott, New York, N.Y.
ISSN: 0001–5652 (print), 1423–0062 (Online)

For additional information: http://www.karger.ch/journals/hhe


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