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