메뉴 건너뛰기




Volumn 51, Issue 6, 1998, Pages 1746-1748

The first European family with tibial muscular dystrophy outside the Finnish population

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME 2Q; CLINICAL ARTICLE; EUROPE; FAMILY STUDY; FEMALE; FINLAND; GENE LOCUS; GENETIC ANALYSIS; GENETIC LINKAGE; HAPLOTYPE; HUMAN; MALE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; TIBIA;

EID: 0031647195     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.6.1746     Document Type: Article
Times cited : (36)

References (10)
  • 2
    • 0023943706 scopus 로고
    • Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: Molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency
    • Kagimoto M, Winter JSD, Kagimoto K, Simpson ER, Waterman MR. Structural characterization of normal and mutant human steroid 17α-hydroxylase genes: molecular basis of one example of combined 17α-hydroxylase/17,20 lyase deficiency. Mol Endocrinol 1988;2:564-570.
    • (1988) Mol Endocrinol , vol.2 , pp. 564-570
    • Kagimoto, M.1    Jsd, W.2    Kagimoto, K.3    Simpson, E.R.4    Waterman, M.R.5
  • 3
    • 0026081588 scopus 로고
    • 17α-hydroxylase/ 17,20-lyase deficiency: From clinical investigation to molecular definition
    • Yanase T, Simpson ER, Waterman MR. 17α-hydroxylase/ 17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev 1991;12:91-108.
    • (1991) Endocr Rev , vol.12 , pp. 91-108
    • Yanase, T.1    Simpson, E.R.2    Waterman, M.R.3
  • 4
    • 0029028807 scopus 로고
    • 17α-hydroxylase/17,20-lyase defects
    • Yanase T. 17α-hydroxylase/17,20-lyase defects. J Steroid Biochem Mol Biol 1995;53:153-157.
    • (1995) J Steroid Biochem Mol Biol , vol.53 , pp. 153-157
    • Yanase, T.1
  • 5
    • 0017178816 scopus 로고
    • Hypokalemic crisis simulating intestinal obstruction in a 4-year-old girl
    • Preeyasombat C, Pitchayayothin N, Viravekin A. Hypokalemic crisis simulating intestinal obstruction in a 4-year-old girl. Am J Dis Child 1976;130:1143-1145.
    • (1976) Am J Dis Child , vol.130 , pp. 1143-1145
    • Preeyasombat, C.1    Pitchayayothin, N.2    Viravekin, A.3
  • 6
    • 0020082309 scopus 로고
    • Hypokalemic myopathy associated with 17α-hydroxylase deficiency: A case report
    • Yazaki K, Kuribayashi T, Yamamura Y, Kurihara T, Araki S. Hypokalemic myopathy associated with 17α-hydroxylase deficiency: a case report. Neurology 1982;32:94-97.
    • (1982) Neurology , vol.32 , pp. 94-97
    • Yazaki, K.1    Kuribayashi, T.2    Yamamura, Y.3    Kurihara, T.4    Araki, S.5
  • 7
    • 0025925362 scopus 로고
    • Missense mutation serine106-proline causes 17α-hydroxylase deficiency
    • Lin D, Harikrishna JA, Moore CCD, Jones KL, Miller WL. Missense mutation serine106-proline causes 17α-hydroxylase deficiency. J Biol Chem 1991;266:15992-15998.
    • (1991) J Biol Chem , vol.266 , pp. 15992-15998
    • Lin, D.1    Harikrishna, J.A.2    Ccd, M.3    Jones, K.L.4    Miller, W.L.5
  • 9
    • 0026756522 scopus 로고
    • Molecular basis of apparent isolated 17,20-lyase deficiency: Compound heterozygous mutations in the C-terminal region (Arg(496)→Cys, Gln(461)→Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency
    • Yanase T, Waterman MR, Zachmann M, Winter JSD, Simpson ER, Kagimoto M. Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)→Cys, Gln(461)→Stop) actually cause combined 17α-hydroxylase/17,20-lyase deficiency. Biochim Biophys Acta 1992;1139:275-279.
    • (1992) Biochim Biophys Acta , vol.1139 , pp. 275-279
    • Yanase, T.1    Waterman, M.R.2    Zachmann, M.3    Jsd, W.4    Simpson, E.R.5    Kagimoto, M.6
  • 10
    • 0031156875 scopus 로고    scopus 로고
    • A5′-splice site mutation in the cytochrome P450 steroid 17α-hydroxylase gene in 17ct-hydroxylase deficiency
    • Yamaguchi H, Nakazato M, Miyazato M, Kangawa K, Matsukura S. A5′-splice site mutation in the cytochrome P450 steroid 17α-hydroxylase gene in 17ct-hydroxylase deficiency. J Clin Endocrinol Metab 1997;82:1934-1938.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1934-1938
    • Yamaguchi, H.1    Nakazato, M.2    Miyazato, M.3    Kangawa, K.4    Matsukura, S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.