A population-based study of autosomal-recessive disease-causing mutations in a founder population

American Journal of Human Genetics

Volumn 91, Issue 4, 2012, Pages 608-620

  Chong, Jessica X ^a   Ouwenga, Rebecca ^a   Anderson, Rebecca L ^a   Waggoner, Darrel J ^a   Ober, Carole ^a  

^a UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; DEMOGRAPHY; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE MUTATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SIMULATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHROMOSOME DISORDERS; EXOME; FOUNDER EFFECT; GENE FREQUENCY; GENES, RECESSIVE; GENETIC TESTING; HAPLOTYPES; HETEROZYGOTE; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84867260310     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.08.007     Document Type: Article

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