A Novel Missense Mutation, A118E, in the Helix Initiation Motif of the Type II Hair Cortex Keratin hHb6, Causing Monilethrix-Reference-Cited by-同舟云学术

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

Published:2000 Issue:5 Volume:50 Page:322-324
ISSN:0001-5652
Container-title:Human Heredity
language:en
Short-container-title:Hum Hered

Author:

Winter Hermelita,Vabres Pierre,Larrègue Marc,Rogers Michael A.,Schweizer Jürgen

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene;Journal of the European Academy of Dermatology and Venereology;2017-06-01

2. Disorders of Hair and Nail;Therapy in Pediatric Dermatology;2016-12-17

3. The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization, and Causes Sudden Cardiac Death;Circulation: Cardiovascular Genetics;2013-12

4. Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis;Human Mutation;2012-10-11

5. A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance;British Journal of Dermatology;2012-06

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