Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa (Q46724837)

24 December 2017

title

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa (English)

1 reference

24 December 2017

author name string

Daisuke Sawamura

1

1 reference

24 December 2017

Maki Goto

2

1 reference

24 December 2017

Kana Yasukawa

3

1 reference

24 December 2017

Kazuko Sato-Matsumura

4

1 reference

24 December 2017

Hideki Nakamura

5

1 reference

24 December 2017

Kei Ito

6

1 reference

24 December 2017

Hiroyuki Nakamura

7

1 reference

24 December 2017

Yuki Tomita

8

1 reference

24 December 2017

Hiroshi Shimizu

9

1 reference

24 December 2017

publication date

28 September 2005

1 reference

24 December 2017

Journal of Human Genetics

published in

1 reference

24 December 2017

volume

50

1 reference

24 December 2017

issue

10

1 reference

24 December 2017

page(s)

543-546

1 reference

24 December 2017

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

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel and de novo glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling

1 reference

12 December 2020

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa

1 reference

12 December 2020

Comparative Mutation Detection Screening of the Type VII Collagen Gene (COL7A1) Using the Protein Truncation Test, Fluorescent Chemical Cleavage of Mismatch, and Conformation Sensitive Gel Electrophoresis

1 reference

12 December 2020

Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa

1 reference

12 December 2020

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)

1 reference

12 December 2020

A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa

1 reference

12 December 2020

The molecular basis of dystrophic epidermolysis bullosa in Mexico

1 reference

12 December 2020

Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa

1 reference

12 December 2020

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa

1 reference

12 December 2020

Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa

1 reference

12 December 2020

Mutation analysis and molecular genetics of epidermolysis bullosa

1 reference

12 December 2020

A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa

1 reference

12 December 2020

A Novel Insertion Mutation in COL7A1 Identified in Hallopeau-Siemens Recessive Dystrophic Epidermolysis Bullosa

1 reference

12 December 2020

Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

1 reference

12 December 2020

Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa.

1 reference

12 December 2020

Simultaneous occurrence of three squamous cell carcinomas in a recessive dystrophic epidermolysis bullosa patient

1 reference

12 December 2020

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity

1 reference

12 December 2020

Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations

1 reference

12 December 2020

10.1007/S10038-005-0290-4

Identifiers

DOI

1 reference

24 December 2017

1 reference

24 December 2017