Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

Item
http://www.wikidata.org/entity/Q28186133
K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.Abnormal differentiation, hyperplasia and embryonic/perinatal lethality in BK5-T/t transgenic mice.Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing.Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments.Diagnostic pitfalls in newborns and babies with blisters and erosions.Expression signature of epidermolysis bullosa simplex.Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex.Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.A new KRT16 mutation associated with a phenotype of pachyonychia congenita.Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity.
P2860

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

Item
http://www.wikidata.org/entity/Q28186133
description
2003 nî lūn-bûn
@nan
2003 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Mutation analysis of the entir ...... ntification of novel mutations
@ast
Mutation analysis of the entir ...... ntification of novel mutations
@en
Mutation analysis of the entir ...... ntification of novel mutations
@nl
type
label
Mutation analysis of the entir ...... ntification of novel mutations
@ast
Mutation analysis of the entir ...... ntification of novel mutations
@en
Mutation analysis of the entir ...... ntification of novel mutations
@nl
prefLabel
Mutation analysis of the entir ...... ntification of novel mutations
@ast
Mutation analysis of the entir ...... ntification of novel mutations
@en
Mutation analysis of the entir ...... ntification of novel mutations
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P356
P1433
P1476
Mutation analysis of the entir ...... ntification of novel mutations
@en
P2093
P304
P31
P356
P407
P433
P478
P577
P5875
P698