Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Verhoef, S ^a   Vrtel, R ^b   Bakker, L ^a   Stolte Dijkstra, I ^c   Nellist, M ^a   Begeer, J H ^d   Zaremba, J ^e   Jozwiak, S ^f   Tempelaars, A M P ^a   Lindhout, D ^a   Halley, D J J ^a   van den Ouweland, A M W ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL OLOMOUC   (Czech Republic)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^f CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; PROTEIN; REPRESSOR PROTEIN; TUBERIN; TUMOR SUPPRESSOR PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CLINICAL EXAMINATION; DNA PROBE; FEMALE; GENE MUTATION; HEMANGIOFIBROMA; HUMAN; MALE; PRIORITY JOURNAL; SOUTHERN BLOTTING; SUBEPENDYMOMA; TUBEROUS SCLEROSIS; CHEMISTRY; FAMILY HEALTH; GENE DELETION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PROTEIN TERTIARY STRUCTURE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; BASE SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GTPASE-ACTIVATING PROTEINS; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN STRUCTURE, TERTIARY; PROTEINS; REPRESSOR PROTEINS; SEQUENCE DELETION; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0031985049     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110129     Document Type: Article

References (14)

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