Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

Human Molecular Genetics

Volumn 6, Issue 12, 1997, Pages 2155-2161

  Jones, Alistair C ^a   Daniells, Claire E ^a   Snell, Russell G ^a   Tachataki, Maria ^a   Idziaszczyk, Shelley A ^a   Krawczak, Michael ^a   Sampson, Julian R ^a   Cheadle, Jeremy P ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HETERODUPLEX;

ARTICLE; DELETION MUTANT; EXON; GENE; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION FRAGMENT; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

HUMANS; MENTAL RETARDATION; MUTATION; PHENOTYPE; PROTEINS; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

MARTES PENNANTI;

EID: 0030696314     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.12.2155     Document Type: Article

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