title: Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.
authors.forename: Kameswara Rao
authors.initials: KR
authors.lastname: Badri
authors.forename: Ling
authors.initials: L
authors.lastname: Gao
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Hyjek
authors.forename: Noa
authors.initials: N
authors.lastname: Schuger
authors.forename: Lucia
authors.initials: L
authors.lastname: Schuger
authors.forename: Wei
authors.initials: W
authors.lastname: Qin
authors.forename: Yvonne
authors.initials: Y
authors.lastname: Chekaluk
authors.forename: David J
authors.initials: DJ
authors.lastname: Kwiatkowski
authors.forename: Xiaoning
authors.initials: X
authors.lastname: Zhe
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D019656:Loss of Heterozygosity; D016040:Lung Transplantation; D018192:Lymphangioleiomyomatosis / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins