Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

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Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Novel sporadic and recurrent m ...... genotype-phenotype correlation

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type

Item

label

Novel sporadic and recurrent m ...... genotype-phenotype correlation

@en

prefLabel

Novel sporadic and recurrent m ...... genotype-phenotype correlation

@en

P1476

Novel sporadic and recurrent m ...... genotype-phenotype correlation

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P2093

A Giza

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A Sobczyńska-Tomaszewska

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D Przybylska

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D Śniegórska

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J Sota

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K Wertheim-Tysarowska

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K Woźniak

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P2860

Inherited epidermolysis bullosa

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath

How do keratinizing disorders and blistering disorders overlap?

A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases.

Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.

Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.

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s13353-015-0310-9

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175-181

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scholarly article

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10.1007/S13353-015-0310-9

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Rafał Płoski

Anna Kutkowska-Kazmierczak

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2015-10-02T00:00:00Z

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282569297

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26432462

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