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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Pulkkinen, L., McGrath, J., Airenne, T., Haakana, H., Tryggvason, K., Kivirikko, S., Meneguzzi, G., Ortonne, J. P., Christiano, A. M., Uitto, J.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: The Feinstein Institute for Medical Research 1997
विषय:
Research Article
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230062/
https://ncbi.nlm.nih.gov/pubmed/9085255
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