A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

Nature

Volumn 434, Issue 7035, 2005, Pages 857-863

  Emison, Ellen Sproat ^a   McCallion, Andrew S ^a   Kashuk, Carl S ^a   Bush, Richard T ^a   Grice, Elizabeth ^a   Lin, Shin ^a   Portnoy, Matthew E ^b   Culler, David J ^a   Green, Eric D ^b   Chakravarti, Aravinda ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BEHAVIORAL RESEARCH; DISEASES; DNA; ENZYME KINETICS; GENES; MUTAGENESIS; SOCIAL ASPECTS;

GENETIC EFFECTS; GENOMIC ANALYSIS; INHERITED DISORDERS; MUTATION;

GENETIC ENGINEERING;

PROTEIN RET; PROTEIN TYROSINE KINASE; ONCOPROTEIN; RET PROTEIN, MOUSE;

BIOLOGY; CANCER; MEDICINE;

ALLELE; ARTICLE; CONTROLLED STUDY; ENHANCER REGION; FAMILY STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME ANALYSIS; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HIRSCHSPRUNG DISEASE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; PENETRANCE; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; GENETIC PREDISPOSITION; GENETICS; GENOMICS; MOLECULAR GENETICS; MOUSE; MUTATION; SEXUAL DEVELOPMENT;

ANIMALS; ENHANCER ELEMENTS (GENETICS); FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HAPLOTYPES; HIRSCHSPRUNG DISEASE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEX CHARACTERISTICS;

EID: 17244383525     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/nature03467     Document Type: Article

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