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Volumn 86, Issue 11, 1995, Pages 4034-4038

Carrier frequency of the IVS4 + 4 A → T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

EID: 0028858123     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v86.11.4034.bloodjournal86114034     Document Type: Article
Times cited : (95)

References (27)
  • 1
    • 0027298257 scopus 로고
    • The need for more accurate and timely diagnosis in Fanconi anemia. A report from the International Fanconi Anemia Registry
    • Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG Auerbach AD: The need for more accurate and timely diagnosis in Fanconi anemia. A report from the International Fanconi Anemia Registry. Pediatrics 91:1116, 1993
    • (1993) Pediatrics , vol.91 , pp. 1116
    • Giampietro, P.F.1    Adler-Brecher, B.2    Verlander, P.C.3    Pavlakis, S.G.4    Davis, J.G.5    Auerbach, A.D.6
  • 3
    • 0024543636 scopus 로고
    • International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity
    • Auerbach AD, Rogatko A, Schroeder-Kurth TM:International Fanconi Anemia Registry: Relation of clinical symptoms to diepoxybutane sensitivity. Blood 73:391, 1989
    • (1989) Blood , vol.73 , pp. 391
    • Auerbach, A.D.1    Rogatko, A.2    Schroeder-Kurth, T.M.3
  • 4
    • 0026878842 scopus 로고
    • Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9
    • Strathdee CA, Duncan AMV, Buchwald M: Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9. Nature Genet 1:196, 1992
    • (1992) Nature Genet , vol.1 , pp. 196
    • Strathdee, C.A.1    Duncan, A.M.V.2    Buchwald, M.3
  • 6
    • 0026521238 scopus 로고
    • Cloning of cDNAs for Fanconi's anaemia by functional complementation
    • Strathdee CA, Gavish H, Shannon WR, Buchwald M: Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature 356:763, 1992
    • (1992) Nature , vol.356 , pp. 763
    • Strathdee, C.A.1    Gavish, H.2    Shannon, W.R.3    Buchwald, M.4
  • 11
    • 0028292273 scopus 로고
    • The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population
    • Whitney MA, Jakobs P, Kaback M, Moses RE, Grompe M: The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population. Hum Mutat 3:339, 1994
    • (1994) Hum Mutat , vol.3 , pp. 339
    • Whitney, M.A.1    Jakobs, P.2    Kaback, M.3    Moses, R.E.4    Grompe, M.5
  • 12
    • 0028899613 scopus 로고
    • One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews
    • Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T, Stern C, Weiss E, Seligsohn U: One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 85:429, 1995
    • (1995) Blood , vol.85 , pp. 429
    • Shpilberg, O.1    Peretz, H.2    Zivelin, A.3    Yatuv, R.4    Chetrit, A.5    Kulka, T.6    Stern, C.7    Weiss, E.8    Seligsohn, U.9
  • 13
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 14
    • 0027491210 scopus 로고
    • Contributing software to the Internet: The Amplify program
    • Engels WR: Contributing software to the Internet: the Amplify program. Trends Biochem Sci 18:448, 1993
    • (1993) Trends Biochem Sci , vol.18 , pp. 448
    • Engels, W.R.1
  • 15
    • 0027407408 scopus 로고
    • Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
    • Gibson RA, Buchwald M, Roberts RG, Mathew CG: Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR. Hum Molec Genet 2:35, 1993
    • (1993) Hum Molec Genet , vol.2 , pp. 35
    • Gibson, R.A.1    Buchwald, M.2    Roberts, R.G.3    Mathew, C.G.4
  • 17
    • 0003010558 scopus 로고
    • A perspective on genetic diseases among the Jewish people
    • Goodman RM, Motulsky AG (eds): New York, NY, Raven
    • Goodman RM: A perspective on genetic diseases among the Jewish people, in Goodman RM, Motulsky AG (eds): Genetic Diseases Among Ashkenazi Jews. New York, NY, Raven, 1979, p 1
    • (1979) Genetic Diseases among Ashkenazi Jews , pp. 1
    • Goodman, R.M.1
  • 19
    • 84937286235 scopus 로고
    • Jewish population in the United States, 1993
    • Philadelphia, PA, The Jewish Publication Society of America
    • Kosmin BA, Scheckner J: Jewish population in the United States, 1993, in: American Jewish Yearbook. Philadelphia, PA, The Jewish Publication Society of America, 1993, p 206
    • (1993) American Jewish Yearbook , pp. 206
    • Kosmin, B.A.1    Scheckner, J.2
  • 20
    • 0027360434 scopus 로고
    • Tay-Sachs disease - Carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993
    • The International TSD Data Collection Network
    • Kaback M, Lim-Stcele J, Dabholkar D, Brown D, Levy N, Zeiger K: Tay-Sachs disease - Carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network. JAMA 270:2307, 1993
    • (1993) JAMA , vol.270 , pp. 2307
    • Kaback, M.1    Lim-Stcele, J.2    Dabholkar, D.3    Brown, D.4    Levy, N.5    Zeiger, K.6
  • 21
    • 0029248868 scopus 로고
    • Jewish diseases and origins
    • Motulsky AG: Jewish diseases and origins. Nature Genet 9:99, 1995
    • (1995) Nature Genet , vol.9 , pp. 99
    • Motulsky, A.G.1
  • 22
    • 0027263071 scopus 로고
    • Gaucher disease as a paradigm of current issues regarding single gene mutations of humans
    • Beutler E: Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci USA 90:5384, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 5384
    • Beutler, E.1
  • 24
    • 0002472579 scopus 로고
    • Genetic diseases in the Ashkenazi population: Evolutionary considerations
    • Bonné-Tamir B, Adam A (eds): Oxford, UK, Oxford University Press
    • Jorde LB: Genetic diseases in the Ashkenazi population: Evolutionary considerations, in Bonné-Tamir B, Adam A (eds): Genetic Diversity Among Jews. Diseases and Markers at the DNA Level. Oxford, UK, Oxford University Press, 1992, p 305
    • (1992) Genetic Diversity among Jews. Diseases and Markers at the DNA Level , pp. 305
    • Jorde, L.B.1
  • 25
    • 0000907753 scopus 로고
    • Jewish lysosomes
    • Diamond JM: Jewish lysosomes. Nature 368:291, 1994
    • (1994) Nature , vol.368 , pp. 291
    • Diamond, J.M.1
  • 26
    • 0028108115 scopus 로고
    • Linkage disequilibrium between the FES, D 15S127, and BLM loci in Ashkenzai Jews with Bloom syndrome
    • Ellis NA, Roe AM, Kozloski J, Proytcheva M, Falk C, German J: Linkage disequilibrium between the FES, D 15S127, and BLM loci in Ashkenzai Jews with Bloom syndrome. Am J Hum Genet 55:453, 1994
    • (1994) Am J Hum Genet , vol.55 , pp. 453
    • Ellis, N.A.1    Roe, A.M.2    Kozloski, J.3    Proytcheva, M.4    Falk, C.5    German, J.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.