Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients

Human Molecular Genetics

Volumn 5, Issue 2, 1996, Pages 249-256

  Wilson, Peter J ^d   Ramesh, Vijaya ^d   Kristiansen, Arthur ^d   Bove, Catherine ^d   Jozwiak, Serguisy ^a   Kwiatkowski, David J ^b   Short, M Priscilla ^c   Haines, Jonathan L ^d  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c Department of Pediatric Neurology ^*  (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENE PRODUCT; TUBERIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 16; CONTROLLED STUDY; DNA POLYMORPHISM; ELECTROPHORETIC MOBILITY; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; LYMPHOBLAST; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

BASE SEQUENCE; DNA PRIMERS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0030032163     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.2.249     Document Type: Article

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