Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported

Journal of Human Genetics

Volumn 58, Issue 4, 2013, Pages 216-225

  Niida, Yo ^a,b   Wakisaka, Akiko ^c   Tsuji, Takanori ^c   Yamada, Hiroshi ^d   Kuroda, Mondo ^a   Mitani, Yusuke ^a   Okumura, Akiko ^a   Yokoi, Ayano ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b KANAZAWA MEDICAL UNIVERSITY   (Japan)

^c National Hospital Organization Iou National Hospital   (Japan)

^d OITA UNIVERSITY   (Japan)

Author keywords

Genotype phenotype correlations; Japanese population; Mutation analysis; TSC1; TSC2; Tuberous sclerosis complex

Indexed keywords

PROTEIN; TSC1 PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; DISEASE SEVERITY; GENE FREQUENCY; GENE MUTATION; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; TUBEROUS SCLEROSIS COMPLEX;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; HUMANS; MUTATION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 84877036849     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2013.3     Document Type: Article

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