Comprehensive mutational analysis of the TSC1 gene: Observations on frequency of mutation, associated features, and nonpenetrance

Annals of Human Genetics

Volumn 62, Issue 4, 1998, Pages 277-285

  Kwiatkowska, J ^a   Jozwiak, S ^b   Hall, F ^a   Henske, E P ^a   Haines, J L ^c   Mcnamara, P ^d   Braiser, J ^a   Wigowska Sowinska, J ^e   Kasprzyk Obara, J ^b   Short, M P ^f   Kwiatkowski, D J ^a,g  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c VANDERBILT UNIVERSITY   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^f AMERICAN MEDICAL ASSOCIATION   (United States)

^g Division of Experimental Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HETERODUPLEX;

ARTICLE; CLINICAL FEATURE; DELETION MUTANT; DISEASE SEVERITY; EXON; GENE INSERTION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MORBIDITY; MUTATION RATE; NONSENSE MUTATION; PENETRANCE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SOUTHERN BLOTTING; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MENTAL RETARDATION; MUTATION; NUCLEIC ACID HETERODUPLEXES; PENETRANCE; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0032436490     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0003480098006952     Document Type: Article

References (10)

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