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Volumn 1, Issue 1, 2010, Pages 37-40

Autosomal recessive disease in children of consanguineous parents: Inferences from the proportion of compound heterozygotes

Author keywords

Allele frequency; Compound heterozygosity; Consanguinity; Estimation; Identity by descent; Identity by state

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; GENE FREQUENCY; GENE NUMBER; GENETIC ASSOCIATION; GENETIC CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INBREEDING; MATHEMATICAL COMPUTING; PRIORITY JOURNAL;

EID: 79952359958     PISSN: 1868310X     EISSN: 18686001     Source Type: Journal    
DOI: 10.1007/s12687-010-0002-4     Document Type: Article
Times cited : (15)

References (6)
  • 1
    • 76249103142 scopus 로고    scopus 로고
    • Consanguinity, human evolution and complex diseases
    • in press
    • Bittles AH, Black ML (2009) Consanguinity, human evolution and complex diseases. Proc Natl Acad Sci USA (in press)
    • (2009) Proc Natl Acad Sci USA
    • Bittles, A.H.1    Black, M.L.2
  • 3
    • 0003873049 scopus 로고
    • University of Chicago Press, Chicago
    • Li CC (1955) Population genetics. University of Chicago Press, Chicago
    • (1955) Population Genetics
    • Li, C.C.1
  • 4
    • 64149110508 scopus 로고    scopus 로고
    • The effect of inbreeding on the distribution of compound heterozygotes: A lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis
    • Petukhova L, Shimomura Y, Wajid M, Gorroochurn P, Hodge SE, Christiano A (2009) The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. Hum Hered 68:117-130
    • (2009) Hum Hered , vol.68 , pp. 117-130
    • Petukhova, L.1    Shimomura, Y.2    Wajid, M.3    Gorroochurn, P.4    Hodge, S.E.5    Christiano, A.6
  • 5
    • 0021835657 scopus 로고
    • Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis
    • Romeo G, Bianco M, Devoto M, Menozzi P, Mastella G, Giunta AM, Micalizzi C, Antonelli M, Battistini A, Santamaria F, Castello D, Marianelli A, Marchi AG, Manca A, Miano A (1985) Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet 37:338-349 (Pubitemid 15053166)
    • (1985) American Journal of Human Genetics , vol.37 , Issue.2 , pp. 338-349
    • Romeo, G.1    Bianco, M.2    Devoto, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.