(Q34560073)

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Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

epidermolysis bullosa simplex

1 reference

based on heuristic

inferred from title

3

object named as

Jouni Uitto

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

author name string

Ellen G Pfendner

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Sara G Sadowski

2

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Europe PubMed Central

PubMed publication ID

3 August 2017

language of work or name

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publication date

1 August 2005

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Journal of Investigative Dermatology

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Europe PubMed Central

PubMed publication ID

3 August 2017

125

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Europe PubMed Central

PubMed publication ID

3 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

239-243

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Epidermolysis bullosa resembling juvenile dermatitis herpetiformis

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Progress in heritable skin diseases: molecular bases and clinical implications

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

The keratins and their disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Molecular genetics of heritable blistering disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Progress in epidermolysis bullosa: genetic classification and clinical implications

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Recurrence risk for germinal mosaics revisited

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.

1 reference

https://api.crossref.org/works/10.1111%2FJ.0022-202X.2005.23818.X

21 January 2018

Identifiers

10.1111/J.0022-202X.2005.23818.X

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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