Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis

Journal of Human Genetics

Volumn 47, Issue 1, 2002, Pages 20-28

  Sato, T ^a   Seyama, K ^a   Fujii, H ^a   Maruyama, H ^c   Setoguchi, Y ^a   Iwakami, S ^a   Fukuchi, Y ^a   Hino, O ^b  

^a JUNTENDO UNIVERSITY   (Japan)

^b CANCER INSTITUTE   (Japan)

^c HOSHIGAOKA KOSEINENKIN HOSPITAL   (Japan)

Author keywords

Forme fruste; Germline mutation; Loss of heterozygosity (LOH); Pulmonary lymphangioleiomyomatosis (LAM); Somatic mutation; TSC1; TSC2; Tuberous sclerosis complex (TSC)

Indexed keywords

GENE PRODUCT; PROTEIN TSC1; TUBERIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JAPAN; LUNG DISEASE; LYMPHANGIOLEIOMYOMATOSIS; MUTATIONAL ANALYSIS; PATHOGENESIS; TUBEROUS SCLEROSIS;

CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, NEOPLASM; FEMALE; GENES, TUMOR SUPPRESSOR; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; JAPAN; LOSS OF HETEROZYGOSITY; LUNG NEOPLASMS; LYMPHANGIOLEIOMYOMATOSIS; MUSCLE, SMOOTH; POLYMORPHISM, GENETIC; PROTEINS; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0036160714     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-002-8651-8     Document Type: Article

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