Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Item
http://www.wikidata.org/entity/Q34117640
Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratodermaMutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathyNew described dermatological disordersPachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.Keratins and skin disorders.Hair and nail relationship.Steatocystoma multiplex is associated with the R94C mutation in the KRTl7 gene.Diagnostic utility of cytokeratin 17 immunostaining in morpheaform basal cell carcinoma and for facilitating the detection of tumor cells at the surgical margins.Nail disorders in children: diagnosis and management.Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts.Case study: pachyonychia congenita: a mixed type II-type IV presentation.Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.
P2860

Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

Item
http://www.wikidata.org/entity/Q34117640
description
2001 nî lūn-bûn
@nan
2001 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@ast
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@en
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@nl
type
label
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@ast
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@en
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@nl
prefLabel
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@ast
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@en
Novel and recurrent mutations ...... ses of pachyonychia congenita.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Novel and recurrent mutations ...... ases of pachyonychia congenita
@en
P2093
P2888
P304
P31
P356
10.1046/J.0022-202X.2001.01565.X
P407
P433
P478
P50
P577
P5875
P6179
P698