(Q35099769)

6 August 2017

1 reference

title

Genetic abnormalities and clinical classification of epidermolysis bullosa (English)

1 reference

6 August 2017

Yoshihiko Mitsuhashi

1

1 reference

PubMed ID

12677430

6 August 2017

Isao Hashimoto

series ordinal

2

1 reference

6 August 2017

24 January 2003

1 reference

Archives of Dermatological Research

6 August 2017

1 reference

6 August 2017

295 Suppl 1

1 reference

6 August 2017

S29-33

1 reference

https://scigraph.springernature.com/pub.10.1007/s00403-002-0369-0

6 August 2017

0 references

cites work

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/10.1007%2FS00403-002-0369-0

Genetic basis of Bart's syndrome: a glycine substitution mutation in the type VII collagen gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

Clinical phenotype of Bart's syndrome seen in a family with dominant dystrophic epidermolysis bullosa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00403-002-0369-0

10.1007/S00403-002-0369-0

21 January 2018

Identifiers

DOI

0 references

PubMed ID

12677430

1 reference

PubMed ID

12677430