Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

Item
http://www.wikidata.org/entity/Q36297365
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos diseaseDiffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutationAlexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability.The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27Keratin gene mutations in disorders of human skin and its appendages.Gene expression profiling in pachyonychia congenita skinLaryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.Diseases of epidermal keratins and their linker proteinsKeratins and disease at a glance.Best treatment practices for pachyonychia congenita.Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.Can skin disease cause neuropathic pain? A study in pachyonychia congenita.
P2860

Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.

Item
http://www.wikidata.org/entity/Q36297365
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Insights into genotype-phenoty ...... te filament mutation database.
@ast
Insights into genotype-phenoty ...... te filament mutation database.
@en
type
label
Insights into genotype-phenoty ...... te filament mutation database.
@ast
Insights into genotype-phenoty ...... te filament mutation database.
@en
prefLabel
Insights into genotype-phenoty ...... te filament mutation database.
@ast
Insights into genotype-phenoty ...... te filament mutation database.
@en
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698
P921
P356
P1433
P1476
Insights into genotype-phenoty ...... te filament mutation database.
@en
P2093
P2888
P304
P31
P356
10.1111/J.1087-0024.2005.10205.X
P433
P478
P577
P5875
P6179
P698
P921