Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Παρασκευή 27 Οκτωβρίου 2017

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation

Abstract

Junctional epidermolysis bullosa (JEB) comprises rare autosomal recessive disorders with a broad spectrum of clinical features and severity. The genetic basis involves mutations in genes encoding proteins of the dermal-epidermal junction, primarily laminin 332. This heterotrimeric glycoprotein consists of laminin α3, β3 and γ2 chains, and the majority of mutations in the respective genes (LAMA3, LAMB3, and LAMC2) lead to premature termination codons resulting in severe generalized JEB (previously Herlitz)1.

This article is protected by copyright. All rights reserved.



http://ift.tt/2zUP65S

Δεν υπάρχουν σχόλια:

Δημοσίευση σχολίου