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Volumn 71, Issue 2, 2007, Pages 202-208

The fate of 12 recessive mutations in a single village

Author keywords

Consanguinity; Founder effect; Genetic counselling; Mutation

Indexed keywords

DNA; GENE PRODUCT; PROTEIN ARSA; PROTEIN GBA; PROTEIN GBJ2; PROTEIN HBB; PROTEIN MEFV; UNCLASSIFIED DRUG;

EID: 34047247337     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2006.00308.x     Document Type: Article
Times cited : (32)

References (11)
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    • Colombo, R. (2000) Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data. Am J Hum Genet 66, 692-697.
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    • Colombo, R.1
  • 6
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    • Endogamy in the Arab world
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    • Klat, M. (1997) Endogamy in the Arab world. In: Genetic disorders among Arab populations (eds. A. S. Teebi & T. I. Farag), pp. 63-80. Oxford Monographs on Medical Genetics, No 30. New York, Oxford: Oxford University Press.
    • (1997) Genetic Disorders Among Arab Populations , pp. 63-80
    • Klat, M.1
  • 8
    • 0035514049 scopus 로고    scopus 로고
    • A genetic profile of contemporary Jewish populations
    • Oster, H. (2001) A genetic profile of contemporary Jewish populations. Nat Rev Genet 2, 891-898.
    • (2001) Nat Rev Genet , vol.2 , pp. 891-898
    • Oster, H.1
  • 9
    • 0030883749 scopus 로고    scopus 로고
    • Autosomal recessive diseases among the Palestinian Arabs
    • Zlotogora, J. (1997) Autosomal recessive diseases among the Palestinian Arabs. J Med Genet 34, 765-766.
    • (1997) J Med Genet , vol.34 , pp. 765-766
    • Zlotogora, J.1
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    • High incidence of deafness in an isolated community from three frequent Connexin 26 mutations
    • Zlotogora, J., Carasquillo, M., Barges, S., Shalev, S. A., Hujerat, Y. & Chakravarti, A. (2006) High incidence of deafness in an isolated community from three frequent Connexin 26 mutations. Genet Test 10, 40-43.
    • (2006) Genet Test , vol.10 , pp. 40-43
    • Zlotogora, J.1    Carasquillo, M.2    Barges, S.3    Shalev, S.A.4    Hujerat, Y.5    Chakravarti, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.