[1] Winter H,Rogers MA,Langbein L,et al.Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.Nat Genet,1997,16:372-374. [2] Winter H,Rogers MA,Gebhardt M,et al.A new mutation in the typeⅡ hair cortex keratin hHbl involved in the inherited hair disorder monilethrix.Hum Genet,1997,101:165-169. [3] van Steensel MA,Steijlen PM,Bladergroen RS,et al.A missense mutation in the type Ⅱ hair keratin hHb3 is associated with monilethrix.J Med Genet,2005,42:e19. [4] 侯显曾,熊春萍.同胞念珠形发二例.中华皮肤科杂志,1995,28:419. [5] 熊春萍,侯显曾,张滨岳,等.全身毛发受累的念珠形发1例.临床皮肤科杂志,2002,31:181-182. [6] Horev L,Djabali K,Green J,et al.De novo mutations in monilethrix.Exp Dermatol,2003,12:882-885. [7] Danciulescu C,Nick B,Wortmann FJ.Structural stability of wild type and mutated alpha-keratin fragments:molecular dynamics and free energy calculations.Biomacromolecules,2004,5:2165-2175. [8] Winter H,Labreze C,Chapalain V,et al.A variable monilethrix phenotype associated with a novel mutation,Glu402Lys,in the helix termination motif of the type Ⅱ hair keratin hHb1.J Invest Dermatol,1998,111:169-172. |