DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

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Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement.

P2860

Q51344953-78591B09-5A00-4F74-86F8-35AFB8EF2624

P2860

DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

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http://www.wikidata.org/entity/Q54382625

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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name

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

@en

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

@nl

type

Item

label

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

@en

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

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prefLabel

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

@en

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

@nl

P1476

DNA-based prenatal diagnosis o ...... sociated with pyloric atresia.

@en

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Daisuke Sawamura

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Hideki Nakamura

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Hiroshi Shimizu

http://www.w3.org/2001/XMLSchema#string

Hiroyuki Nakamura

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James R McMillan

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Masashi Akiyama

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Wataru Nishie

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P2860

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

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

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature.

Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1)

Plectin gene defects lead to various forms of epidermolysis bullosa simplex.

Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms.

Role of binding of plectin to the integrin beta4 subunit in the assembly of hemidesmosomes.

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

P304

439-442

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scholarly article

P356

10.1111/J.1365-4632.2010.04771.X

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Ken Natsuga

P577

2011-04-01T00:00:00Z

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P698

21413955

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DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

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P2860

P2860

DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.

description

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698