Article
Detection of low-prevalence somatic TSC2 mutations in sporadic pulmonary lymphangioleiomyomatosis tissues by deep sequencing.
Human genetics - 1 Jan 2016
Fujita Atsushi, Ando Katsutoshi, Kobayashi Etsuko, Mitani Keiko, Okudera Koji, Nakashima Mitsuko, Miyatake Satoko, Tsurusaki Yoshinori, Saitsu Hirotomo, Seyama Kuniaki, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
Lymphangioleiomyomatosis (LAM) (MIM #606690) is a rare lung disorder leading to respiratory failure associated with progressive cystic destruction due to the proliferation and infiltration of abnormal smooth muscle-like cells (LAM cells). LAM can occur alone (sporadic LAM, S-LAM) or combined with tuberous sclerosis complex (TSC-LAM). TSC is caused by a germline heterozygous mutation in either TSC1 or TSC2, and...
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