✦ LIBER ✦

Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene

✍ Scribed by Koshida, Shigeki; Tsukamura, Atsushi; Yanagi, Takahide; Nakahara, Sayuri; Takeuchi, Yoshihiro; Kato, Takashi; Tanaka, Toshihiro; Nakano, Hajime; Shimizu, Hiroshi

Book ID: 120359144
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 576 KB
Volume: 55
Category: Article
ISSN: 1328-8067
DOI: 10.1111/j.1442-200X.2012.03638.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A homozygous insertion–deletion in the t

A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

✍ Hilal, Latifa; Rochat, Ariane; Duquesnoy, Philippe; Blanchet-Bardon, Claudine; W 📂 Article 📅 1993 🏛 Nature Publishing Group 🌐 English ⚖ 880 KB

Two novel heterozygous mutations in COL7

Two novel heterozygous mutations in COL7A1 in a Chinese patient with recessive dystrophic epidermolysis bullosa of Hallopeau–Siemens type

✍ W. Jiang; Y. Sun; S. Li; X.X. Chen; D.F. Bu; X.J. Zhu 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB

A splicing mutation in the COL7A1 gene c

A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa

✍ X. Ren; J.Y. Liu; L.Y. Zhai; Q. Yao; X. Dai; Z. Cai; P. Liu; K. Sun; C. Huang; Q 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 266 KB

Single cell PCR amplification of microsa

Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau–Siemens recessive dystrophic epidermolysis bullosa

✍ Fassihi, H.; Renwick, P.J.; Black, C.; McGrath, J.A. 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 497 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

Genotype–phenotype correlation in non-Ha

Genotype–phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: The splice site mutation c.6216+5G>T in the COL7A1 gene results in aberrant and normal splicings

✍ Hamada, Takahiro; Fukuda, Shunpei; Ishii, Norito; Sakaguchi, Sachiko; Ishikawa, 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 640 KB