Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.

BACKGROUND: Laminin 5, an anchoring filament attachment protein within the lamina lucida of the basement membrane zone involved in the pathogenesis of junctional epidermolysis bullosa (JEB), consists of three polypeptide subunits, the alpha 3, beta 3, and gamma 2 chains which are encoded by the LAMA...

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Main Authors: Pulkkinen, L., McGrath, J., Airenne, T., Haakana, H., Tryggvason, K., Kivirikko, S., Meneguzzi, G., Ortonne, J. P., Christiano, A. M., Uitto, J.
格式: Artigo
語言:Inglês
出版: The Feinstein Institute for Medical Research 1997
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230062/
https://ncbi.nlm.nih.gov/pubmed/9085255
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