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Journal of Inherited Metabolic Disease
Volumn 31, Issue 6, 2008, Pages 697-702
Quality of diagnostic mutation analyses for phenylketonuria
Author keywords

[No Author keywords available]
Indexed keywords

ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; DISEASE SEVERITY; DNA SEQUENCE; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; MUTATIONAL ANALYSIS; PHENOTYPE; PHENYLKETONURIA; QUALITY CONTROL; SEQUENCE ANALYSIS;
EID: 57649219765     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-1052-1     Document Type: Article
Times cited : (5)
References (8)
  • 1
    • 33847726710 scopus 로고    scopus 로고
    • Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany
    • Birk Moller L, Nygren AO, Scott P, et al (2007) Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany. Hum Mutat 28: 207.
    • (2007) Hum Mutat , vol.28 , pp. 207
    • Birk Moller, L.1    Nygren, A.O.2    Scott, P.3
  • 2
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: Exonic mutations that affect splicing. Nat Rev Genet 3: 285-298.
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 3
    • 0031744522 scopus 로고    scopus 로고
    • Proof of "disease causing" mutation
    • Cotton RG, Scriver CR (1998) Proof of "disease causing" mutation. Hum Mutat 12: 1-3.
    • (1998) Hum Mutat , vol.12 , pp. 1-3
    • Cotton, R.G.1    Scriver, C.R.2
  • 4
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109: 121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 5
    • 0345517980 scopus 로고    scopus 로고
    • Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions
    • Desviat LR, Perez B, Gamez A, et al (1999) Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: Molecular survey by regions. Eur J Hum Genet 7: 386-392.
    • (1999) Eur J Hum Genet , vol.7 , pp. 386-392
    • Desviat, L.R.1    Perez, B.2    Gamez, A.3
  • 6
    • 0028217614 scopus 로고
    • 'Broad-range' DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene
    • Guldberg P, Güttler F (1994) 'Broad-range' DGGE for single-step mutation scanning of entire genes: Application to human phenylalanine hydroxylase gene. Nucleic Acids Res 22: 880-881.
    • (1994) Nucleic Acids Res , vol.22 , pp. 880-881
    • Guldberg, P.1    Güttler, F.2
  • 7
    • 57649219937 scopus 로고    scopus 로고
    • Molecular testing for endocrine and metabolic disorders
    • In: Sarafoglou K, Hoffmann GF, Moran A, eds. New York: McGraw Hill
    • Zschocke J (2008) Molecular testing for endocrine and metabolic disorders. In: Sarafoglou K, Hoffmann GF, Moran A, eds. Pediatric Endocrinology and Inborn Errors of Metabolism. New York: McGraw Hill.
    • (2008) Pediatric Endocrinology and Inborn Errors of Metabolism
    • Zschocke, J.1

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.