SNP identification, haplotype analysis, and parental origin of mutations in TSC2

Human Genetics

Volumn 111, Issue 1, 2002, Pages 96-101

  Roberts, Penelope S ^a   Chung, Joon ^a   Jozwiak, Sergiusz ^b   Dabora, Sandra L ^a   Franz, David N ^c   Thiele, Elizabeth A ^d,e   Kwiatkowski, David J ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b University Hospital for Children   (Poland)

^c CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3' UNTRANSLATED REGION; ALLELE; ARTICLE; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; EXTRACHROMOSOMAL INHERITANCE; FATHER; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC PREDISPOSITION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; MOTHER; MUTATIONAL ANALYSIS; PARENT; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR GENE;

ADULT; DNA PRIMERS; EXONS; FEMALE; GENE DELETION; GENOTYPE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0036664837     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0738-y     Document Type: Article

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