Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Human Mutation

Volumn 14, Issue 5, 1999, Pages 412-422

  Niida, Yo ^a   Lawrence Smith, Nicole ^a   Banwell, Ashleigh ^a   Hammer, Erica ^a   Lewis, Janine ^a   Beauchamp, Roberta L ^a   Sims, Katherine ^a   Ramesh, Vijaya ^a   Ozelius, Laurie ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

Hamartin; SSCP; TSC1; TSC2; Tuberin; Tuberous sclerosis complex

Indexed keywords

MUTANT PROTEIN; TUBERIN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL FEATURE; FRAMESHIFT MUTATION; GENETIC COUNSELING; GERM LINE; HAMARTOMA; HUMAN; MISSENSE MUTATION; MOLECULAR CLONING; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; GERM-LINE MUTATION; HUMANS; INTRONS; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; REPRESSOR PROTEINS; RNA SPLICING; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

MARTES PENNANTI;

EID: 0032726851     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199911)14:5<412::AID-HUMU7>3.0.CO;2-K     Document Type: Article

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