Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families

European Journal of Pediatric Surgery

Volumn 13, Issue 3, 2003, Pages 152-157

  Fitze, Guido ^a   Cramer, J ^a   Serra, A ^a   Schreiber, M ^b   Roesner, D ^a   Schackert, H K ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Familial Hirschsprung disease; Penetrance; Polymorphism; RET germline mutation

Indexed keywords

AGANGLIONOSIS; ALLELISM; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; DNA MODIFICATION; DNA POLYMORPHISM; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE INTERACTION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; GERM LINE; HAPLOTYPE; HEREDITY; HIRSCHSPRUNG DISEASE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PROTO ONCOGENE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ALLELES; EXONS; FEMALE; GENE DOSAGE; GENOTYPE; GERM-LINE MUTATION; HIRSCHSPRUNG DISEASE; HUMANS; MALE; POLYMORPHISM, GENETIC; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEQUENCE ANALYSIS, DNA;

EID: 0043023371     PISSN: 09397248     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-41270     Document Type: Conference Paper

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