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Volumn 72, Issue 3, 2008, Pages 305-309

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population

Author keywords

Arabs; Druze; Jews; Mutation analysis; PAH; Phenylalanine hydroxylase gene; Phenylketonuria

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

EID: 42149181209     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2007.00425.x     Document Type: Article
Times cited : (26)

References (10)
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    • Avigad, S.1    Kleiman, S.2    Weinstein, M.3    Cohen, B.E.4    Schwartz, G.5    Woo, S.L.6    Shiloh, Y.7
  • 4
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    • Disease gene mapping in isolated human populations: The example of Finland
    • de la Chapelle, A. (1993) Disease gene mapping in isolated human populations: The example of Finland. J Med Genet 30, 857-865.
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    • de la Chapelle, A.1
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    • A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs
    • &
    • Kleiman, S., Bernstein, J., Schwartz, G., Eisensmith, R. C., Woo, S. L. & Shiloh, Y. (1992) A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs. Hum Mutat 1, 340-343.
    • (1992) Hum Mutat , vol.1 , pp. 340-343
    • Kleiman, S.1    Bernstein, J.2    Schwartz, G.3    Eisensmith, R.C.4    Woo, S.L.5    Shiloh, Y.6
  • 7
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    • The two common mutations causing factor XI deficiency in Jews stem from distinct founders: One of ancient Middle Eastern origin and another of more recent European origin
    • Peretz, H., Mulai, A., Usher, S., Zivelin, A., Segal, A., Weisman, Z., Mittelman, M., Lupo, H., Lanir, N., Brenner, B., Shpilberg, O. & Seligsohn, U. (1997) The two common mutations causing factor XI deficiency in Jews stem from distinct founders: One of ancient Middle Eastern origin and another of more recent European origin. Blood 90, 2654-2659.
    • (1997) Blood , vol.90 , pp. 2654-2659
    • Peretz, H.1    Mulai, A.2    Usher, S.3    Zivelin, A.4    Segal, A.5    Weisman, Z.6    Mittelman, M.7    Lupo, H.8    Lanir, N.9    Brenner, B.10    Shpilberg, O.11    Seligsohn, U.12
  • 8
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    • Statistical Abstracts of Israel (Ed.)
    • Statistical Abstracts of Israel (2007). In J. Central Bureau of Statistics (Ed.).
    • (2007) In J. Central Bureau of Statistics
  • 9
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    • A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria
    • Weinstein, M., Eisensmith, R. C., Abadie, V., Avigad, S., Lyonnet, S., Schwartz, G., Munnich, A., Woo, S. L. & Shiloh, Y. (1993) A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria. Hum Genet 90, 645-649.
    • (1993) Hum Genet , vol.90 , pp. 645-649
    • Weinstein, M.1    Eisensmith, R.C.2    Abadie, V.3    Avigad, S.4    Lyonnet, S.5    Schwartz, G.6    Munnich, A.7    Woo, S.L.8    Shiloh, Y.9
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    • Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database
    • May 10 [Epub ahead of print]
    • Zlotogora, J., van Baal, S. & Patrinos, G. P. (2007) Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database. Hum Mutat. May 10; [Epub ahead of print]
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    • Zlotogora, J.1    van Baal, S.2    Patrinos, G.P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.