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Original Paper
T. Murata, T. Masunaga, H. Shimizu, Y. Takizawa, A Ishiko, N. Hatta and T. Nishikawa
Journal Article
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 and J. Uitto
Archives of Dermatological Research, 2000, Volume 292, Number 4, Pages 159-163
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa
Daisuke Sawamura, Maki Goto, Kana Yasukawa, Kazuko Sato-Matsumura and Hideki Nakamura, et al.
Journal of Human Genetics, 2005, Volume 50, Number 10, Pages 543-546
COL7A1 mutation G2037E causes epidermal retention of type VII collagen
Daisuke Sawamura, Kazuko Sato-Matsumura, Satoko Shibata, Akari Tashiro and Masutaka Furue, et al.
Journal of Human Genetics, 2006, Volume 51, Number 5, Pages 418-423
4. Bullous MM
Journal of Cutaneous Medicine and Surgery: Incorporating Medical and Surgical Dermatology, 2004, Volume 8, Number 6, Page 459
Mitochondrial DNA deletion in a girl with Fanconi’s syndrome
Kam Ming Au, Shing Chi Lau, Yuen Fun Mak, Wai Ming Lai and Tat Chong Chow, et al.
Pediatric Nephrology, 2007, Volume 22, Number 1, Pages 136-140
4. Bullous and Mucous Membrane Disorders
Medical and Surgical Dermatology, 2008, Volume 9, Number 6, Pages 353-354
Book Chapter
Therapeutical Approaches
Christoph M. Lanschuetzer, Elke Nischler, Anja Diem, Gabriela Pohla-Gubo and Helmut Hintner, et al.
2009, Life with Epidermolysis Bullosa (EB), Pages 209-308
Neurophysiology of migraine
Giorgio Sandrini, Alberto Proietti Cecchini, Sonya Ivanova Hristova, Grazia Sances and Giuseppe Nappi
The Journal of Headache and Pain, 2001, Volume 2, Supplement 1, Pages s67-s71
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening
Ute Spiekerkoetter
Journal of Inherited Metabolic Disease, 2010, Volume 33, Number 5, Pages 527-532
Synovial Tissue Heterogeneity and Peripheral Blood Biomarkers
Serena Bugatti, Antonio Manzo, Michele Bombardieri, Barbara Vitolo and Frances Humby, et al.
Current Rheumatology Reports, 2011, Volume 13, Number 5, Pages 440-448
Key words Type VII collagen - Pruriginosa - Anchoring fibril - Basement membrane
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