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Volumn 14, Issue 2, 2010, Pages 233-235

Mutations of the phenylalanine hydroxylase gene in Iranian Azeri Turkish patients with phenylketonuria

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE; PHENYLALANINE 4 MONOOXYGENASE;

EID: 77950967101     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2009.0153     Document Type: Article
Times cited : (25)

References (11)
  • 1
    • 0037389132 scopus 로고    scopus 로고
    • Mutational spectrum in German patients with phenylalanine hydroxylase deficiency
    • Aulehla-Scholz C, Heilbronner H (2003) Mutational spectrum in German patients with phenylalanine hydroxylase deficiency. Hum Mutat 21:399-400.
    • (2003) Hum Mutat , vol.21 , pp. 399-400
    • Aulehla-Scholz, C.1    Heilbronner, H.2
  • 4
    • 0019212423 scopus 로고
    • Hyperphenylalaninemia: Diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood
    • Güttler F (1980) Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency. Acta Paediatr Scand Suppl 280:1-80. (Pubitemid 11234642)
    • (1980) Acta Paediatrica Scandinavica , vol.69 , Issue.SUPPL.280
    • Guttler, F.1
  • 5
    • 0029894295 scopus 로고    scopus 로고
    • Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt
    • DOI 10.1007/s004390050150
    • Hashem N, Bosco P, Chiavetta V, et al. (1996) Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt. Hum Genet 98:3-6. (Pubitemid 26181273)
    • (1996) Human Genetics , vol.98 , Issue.1 , pp. 3-6
    • Hashem, N.1    Bosco, P.2    Chiavetta, V.3    Cali, F.4    Ceratto, N.5    Romano, V.6
  • 6
    • 0028220709 scopus 로고
    • Origins of hyperphenylalaninemia in Israel
    • Kleiman S, Smadar A, Vanagite L, et al. (1994) Origins of hyperphenylalaninemia in Israel. Eur J Hum Genet 2:24-34.
    • (1994) Eur J Hum Genet , vol.2 , pp. 24-34
    • Kleiman, S.1    Smadar, A.2    Vanagite, L.3
  • 7
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 8
    • 0037387815 scopus 로고    scopus 로고
    • The molecular basis of phenylketonuria in Latvia
    • Pronina N, Giannattasio S, Lattanzio P, et al. (2003) The molecular basis of phenylketonuria in Latvia. Hum Mutat 21:398-399.
    • (2003) Hum Mutat , vol.21 , pp. 398-399
    • Pronina, N.1    Giannattasio, S.2    Lattanzio, P.3
  • 11
    • 0037237526 scopus 로고    scopus 로고
    • Phenylketonuria mutations in Europe
    • DOI 10.1002/humu.10192
    • Zschocke J (2003) Phenylketonuria mutations in Europe. Hum Mutat 21:345-356. (Pubitemid 36389824)
    • (2003) Human Mutation , vol.21 , Issue.4 , pp. 345-356
    • Zschocke, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.