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Volumn 22, Issue 2, 2005, Pages 134-137

Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria

Author keywords

Gene mutation; Phenylalanine hydroxylase; Phenylketonuria; Polymerase chain reaction

Indexed keywords

PHENYLALANINE 4 MONOOXYGENASE;

EID: 17244379715     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (9)

References (8)
  • 2
    • 3042821262 scopus 로고    scopus 로고
    • Ten novel mutations in the phenylalanine hydroxylase gene identified in the Chinese patients with phenylketonuria
    • Song F, Jin YW, Wang H, et al. Ten novel mutations in the phenylalanine hydroxylase gene identified in the Chinese patients with phenylketonuria. Acta Acad Med Sinicae, 2003, 25: 142-144.
    • (2003) Acta Acad Med Sinicae , vol.25 , pp. 142-144
    • Song, F.1    Jin, Y.W.2    Wang, H.3
  • 4
    • 17244364628 scopus 로고
    • Mutations and their frequencies in exon 7 of phenylalanine hydroxylase gene of phenylketonuria in southern Chinese
    • Zhang M, Gu XF, Zhang LH, et al. Mutations and their frequencies in exon 7 of phenylalanine hydroxylase gene of phenylketonuria in southern Chinese. Chin J Med Genet, 1995, 12: 324-326.
    • (1995) Chin J Med Genet , vol.12 , pp. 324-326
    • Zhang, M.1    Gu, X.F.2    Zhang, L.H.3
  • 5
    • 0031324293 scopus 로고    scopus 로고
    • Novel mutation identified in exon 7 of phenylalanine hydroxylase gene in Chinese
    • Sun GF, Jiang L, Zhang X, et al. Novel mutation identified in exon 7 of phenylalanine hydroxylase gene in Chinese. Acta Genetica Sinica, 1997, 24: 429-495.
    • (1997) Acta Genetica Sinica , vol.24 , pp. 429-495
    • Sun, G.F.1    Jiang, L.2    Zhang, X.3
  • 6
    • 0036544858 scopus 로고    scopus 로고
    • A new type of mutation causes a splicing defect in ATM
    • Pagani F, Buratti E, Stuani C, et al. A new type of mutation causes a splicing defect in ATM. Nat Genet, 2002, 30: 426-429.
    • (2002) Nat Genet , vol.30 , pp. 426-429
    • Pagani, F.1    Buratti, E.2    Stuani, C.3
  • 7
    • 0033966774 scopus 로고    scopus 로고
    • Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1
    • Ars E, Serra E, Garcia J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. Hum Mol Genet, 2000, 9: 237-247.
    • (2000) Hum Mol Genet , vol.9 , pp. 237-247
    • Ars, E.1    Serra, E.2    Garcia, J.3
  • 8
    • 0036113829 scopus 로고    scopus 로고
    • A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts
    • Yamaguchi S, Shinmura K, Saitoh T, et al. A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts. Genes Cells, 2002, 7: 461-474.
    • (2002) Genes Cells , vol.7 , pp. 461-474
    • Yamaguchi, S.1    Shinmura, K.2    Saitoh, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.