Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti

Autor: Guevara, Bryan Edgar K, Hsu, Chao-Kai, Liu, Lu, Feast, Alice, Alabado, Karen Lee P, Lacuesta, Maricarr Pamela M, Lee, Julia Yu-Yun, McGrath, John A

Publikováno v: Guevara, B E K, Hsu, C-K, Liu, L, Feast, A, Alabado, K L P, Lacuesta, M P M, Lee, J Y-Y & McGrath, J A 2016, ' Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti ', The Australasian journal of dermatology, vol. 57, no. 2, pp. 150–153 . https://doi.org/10.1111/ajd.12407

Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic dele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2761::139a816533e4273b54e95072ae9757d0
https://kclpure.kcl.ac.uk/ws/files/55915027/IP_paper_AJD_accepted_version.pdf