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Volumn 8, Issue 2, 2006, Pages 282-287

Consultations in molecular diagnostics: Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population

Author keywords

[No Author keywords available]

Indexed keywords

ACCURACY; ALLELE; ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INCIDENCE; JEW; MAJOR CLINICAL STUDY; MOLECULAR PROBE; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; MUTANT; NUCLEOTIDE SEQUENCE; PREDICTION; VALIDATION PROCESS; WILD TYPE; ETHNOLOGY; GENETICS; METHODOLOGY; MUTATION; TIME;

EID: 33744534530     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2006.050026     Document Type: Article
Times cited : (6)

References (11)
  • 1
    • 0033760264 scopus 로고    scopus 로고
    • Cloning of the gene encoding a novel integral membrane protein, mucolipidin - And identification of the two major founder mutations causing mucolipidosis type IV
    • Bassi MT, Manzoni M, Monti E, Pizzo MT, Ballabio A, Borsani G: Cloning of the gene encoding a novel integral membrane protein, mucolipidin - and identification of the two major founder mutations causing mucolipidosis type IV. Am J Hum Genet 2000, 67:1110-1120
    • (2000) Am J Hum Genet , vol.67 , pp. 1110-1120
    • Bassi, M.T.1    Manzoni, M.2    Monti, E.3    Pizzo, M.T.4    Ballabio, A.5    Borsani, G.6
  • 4
    • 0034869503 scopus 로고    scopus 로고
    • Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV
    • Wang ZH, Zeng B, Pastores GM, Raksadawan N, Ong E, Kolodny EH: Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV. Genet Test 2001, 5:87-92
    • (2001) Genet Test , vol.5 , pp. 87-92
    • Wang, Z.H.1    Zeng, B.2    Pastores, G.M.3    Raksadawan, N.4    Ong, E.5    Kolodny, E.H.6
  • 5
    • 0036206760 scopus 로고    scopus 로고
    • Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population
    • Edelmann L, Dong J, Desnick RJ, Kornreich R: Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. Am J Hum Genet 2002, 70:1023-1027
    • (2002) Am J Hum Genet , vol.70 , pp. 1023-1027
    • Edelmann, L.1    Dong, J.2    Desnick, R.J.3    Kornreich, R.4
  • 9
    • 0036695865 scopus 로고    scopus 로고
    • Mucolipidosis IV: Novel mutation and diverse ultrastructural spectrum in the skin
    • Bargal R, Goebel HH, Latta E, Bach G: Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skin. Neuropediatrics 2002, 33:199-202
    • (2002) Neuropediatrics , vol.33 , pp. 199-202
    • Bargal, R.1    Goebel, H.H.2    Latta, E.3    Bach, G.4
  • 10
    • 2642528704 scopus 로고    scopus 로고
    • Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory
    • Strom CM, Crossley B, Redman JB, Quan F, Buller A, McGinniss M, Sun W: Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. Genet Medicine 2004, 6:145-152
    • (2004) Genet Medicine , vol.6 , pp. 145-152
    • Strom, C.M.1    Crossley, B.2    Redman, J.B.3    Quan, F.4    Buller, A.5    McGinniss, M.6    Sun, W.7
  • 11
    • 23444440644 scopus 로고    scopus 로고
    • Time-motion analysis of 6 cystic fibrosis mutation detection systems
    • Krafft AE, Lichy JH: Time-motion analysis of 6 cystic fibrosis mutation detection systems. Clin Chem 2005, 51:1116-1122
    • (2005) Clin Chem , vol.51 , pp. 1116-1122
    • Krafft, A.E.1    Lichy, J.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.