✦ LIBER ✦

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

✍ Scribed by J. Y.-Y. Lee; C. Li; S. -C. Chao; L. Pulkkinen; J. Uitto

Book ID: 106079528
Publisher: Springer-Verlag
Year: 2000
Tongue: English
Weight: 162 KB
Volume: 292
Category: Article
ISSN: 0340-3696
DOI: 10.1007/s004030050472

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A recurrent glycine substitution mutatio

A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa

✍ Mellerio; Salas-Alanis; Talamantes; Horn; Tidman; Ashton; Eady; Mcgrath 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 946 KB

Molecular basis of dystrophic epidermoly

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

✍ Anitta Järvikallio; Leena Pulkkinen; Jouni Uitto 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 1 views

Epidermolysis bullosa (EB), a group of heritable blistering diseases characterized by tissue separation within the cutaneous basement membrane zone, is inherited either in an autosomal dominant or autosomal recessive fashion. EB has been divided into four broad categories based on the precise level

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

Exon 87 skipping of the COL7A1 gene in d

Exon 87 skipping of the COL7A1 gene in dominant dystrophic epidermolysis bullosa

✍ Hiroshi KOGA; Takahiro HAMADA; Norito ISHII; Shunpei FUKUDA; Sachiko SAKAGUCHI; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 French ⚖ 301 KB

Glycine substitution mutations by differ

Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa

✍ T. Murata; T. Masunaga; H. Shimizu; Y. Takizawa; A Ishiko; N. Hatta; T. Nishikaw 📂 Article 📅 2000 🏛 Springer-Verlag 🌐 English ⚖ 166 KB

Frameshift mutations in the type VII col

Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa

✍ Salas-Alanis; Mellerio; Amaya-Guerra; Ashton; Eady; Mcgrath 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 819 KB

Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the type VII collagen gene (COL7A1). In this study, we assessed the molecular basis of recessive DEB in five affected individuals from two Mexican families. Both fathers of the affected children were first cousins. Genomic DNA was extr