The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1991-1996

  Maheshwar, Magitha M ^c   Cheadle, Jeremy P ^c   Jones, Alistair C ^c   Myring, Jenny ^c   Fryer, Alan E ^a   Harris, Peter C ^b   Sampson, Julian R ^c  

^a ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^c CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; TUBERIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATION RATE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE HOMOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

AMINO ACID SEQUENCE; ANIMALS; FEMALE; GTP-BINDING PROTEINS; GTPASE-ACTIVATING PROTEINS; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; RAP GTP-BINDING PROTEINS; RAS GTPASE-ACTIVATING PROTEINS; RATS; REPRESSOR PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0030828764     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1991     Document Type: Article

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