Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1
about
In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses.New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.Keratin gene mutations in disorders of human skin and its appendages.Keratins and skin disorders.Ichthyosis bullosa of Siemens.Diseases of epidermal keratins and their linker proteinsIchthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disordersHereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1).A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.Disorders of Keratinization
P2860
Q28817702-0CCEE3CC-CDAF-45D5-B8BE-BA7EDC383C92Q34088849-CFE7F476-091A-486C-AAF5-AF377DAB160CQ35125858-47FDCA90-D212-4E66-9355-4C5E01593A89Q35923500-BD060A37-3E4C-44AB-9426-C35C65412FA7Q36315634-33CF57DD-6E9F-4871-A5FD-93F4434BF829Q36832566-31F19950-2999-49B7-A208-1C2690B514D9Q37045238-C441E1DD-7149-48F6-8DD8-1209D077A837Q38761875-C36CA769-5C82-421C-B26B-56E33724C2FCQ44480813-47C9EBC9-BDA8-4341-AFB4-412F07D77313Q46856717-837140E6-FD08-44A1-A9E6-234BEBFBB0D4Q47298003-A6B00F44-75A1-453F-BD6A-AC96CA1BCE8CQ58859701-832A9A5E-491B-47FD-A2FE-2B77088F72C3
P2860
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1
description
1999 nî lūn-bûn
@nan
1999 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մարտին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@ast
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@en
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@nl
type
label
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@ast
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@en
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@nl
prefLabel
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@ast
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@en
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@nl
P2093
P2860
P356
P1476
Cyclic ichthyosis with epiderm ...... in the 2B domain of keratin K1
@en
P2093
P2860
P304
P356
10.1086/302278
P407
P50
P577
1999-03-01T00:00:00Z