✦ LIBER ✦

A novel indel COL7A1 mutation 8068del17insGA causes dominant dystrophic epidermolysis bullosa

✍ Scribed by D. Sawamura; H. Niizeki; S. Miyagawa; S. Shinkuma; H. Shimizu

Book ID: 108668706
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 372 KB
Volume: 154
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2006.07148.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel missense mutation in the COL7A1

A novel missense mutation in the COL7A1 gene causes epidermolysis bullosa pruriginosa

✍ B.-J. Shi; J. Feng 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 164 KB

Prenatal diagnosis of dominant dystrophi

Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis

✍ S. Klingberg; R. Mortimore; J. Parkes; J. E. D. Chick; A. E. Clague; D. Murrell; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB 👁 1 views

A Novel Glycine Mutation in the Col7a1 G

A Novel Glycine Mutation in the Col7a1 Gene Leading to Dominant Dystrophic Epidermolysis Bullosa with Intra-Familial Phenotypical Heterogeneity

✍ ELISABETH RIEDL; ALFRED KLAUSEGGER; JOHANN W. BAUER; DAGMAR FOEDINGER; HARALD KI 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB

A case of recessive dystrophic epidermol

A case of recessive dystrophic epidermolysis bullosa caused by compound heterozygous mutations in the COL7A1 gene

✍ S. Suzuki; Y. Shimomura; Y. Yamamoto; N. Kariya; M. Shibuya; M. Ito; H. Fujiwara 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 701 KB

A de novo glycine substitution mutation

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

✍ J. Y.-Y. Lee; C. Li; S. -C. Chao; L. Pulkkinen; J. Uitto 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 162 KB

Recessive dystrophic epidermolysis bullo

Recessive dystrophic epidermolysis bullosa caused by COL7A1 hemizygosity and a missense mutation with complex effects on splicing

✍ Matthias Titeux; José Enrique Mejía; Luciné Mejlumian; Sylvie Bourthoumieu; Sand 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 416 KB

Loss-of-function mutations in the gene encoding type VII collagen, COL7A1, are the molecular basis of the blistering skin disorder, recessive dystrophic epidermolysis bullosa (RDEB). COL7A1 maps to a region of the short arm of chromosome 3 that has been found to be deleted in many types of malignanc