Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis

Journal of Medical Genetics

Volumn 35, Issue 12, 1998, Pages 969-972

  Ali, Johari B M ^a   Sepp, Tiina ^a,b   Ward, Susannah ^a   Green, Andrew J ^a,c   Yates, John R W ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b MEDICAL RESEARCH COUNCIL   (United Kingdom)

^c UNIVERSITY COLLEGE DUBLIN   (Ireland)

Author keywords

Mutation detection; TSC1 gene; Tuberous sclerosis

Indexed keywords

DNA; HETERODUPLEX;

ARTICLE; CHROMOSOME INSERTION; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRANSCRIPTION; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; RNA SPLICING; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

EID: 0031726093     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.12.969     Document Type: Article

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