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Volumn 41, Issue 3, 1997, Pages 458-462

Cloning and characterization of an alternatively spliced gene in proximal Xq28 deleted in two patients with intersexual genitalia and myotubular myopathy

Author keywords

[No Author keywords available]

Indexed keywords

ALTERNATIVE RNA SPLICING; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CHROMOSOME XQ; DNA SEQUENCE; GENE DELETION; GENE LOCATION; HERMAPHRODITISM; HUMAN; MALE; MOLECULAR CLONING; PRIORITY JOURNAL;

EID: 0031149631     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4662     Document Type: Article
Times cited : (40)

References (15)
  • 1
    • 0029167302 scopus 로고
    • Complete sequence of a 38.4 kb human cosmid insert containing the polymorphic marker DXS455 from Xq28
    • 1. Andersson, B., Lu, F., Muzny, D. M., Warren, S. T., and Gibbs, R. A. (1995). Complete sequence of a 38.4 kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. DNA Seq. 5: 219-223.
    • (1995) DNA Seq. , vol.5 , pp. 219-223
    • Andersson, B.1    Lu, F.2    Muzny, D.M.3    Warren, S.T.4    Gibbs, R.A.5
  • 2
  • 3
    • 0028606338 scopus 로고
    • X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)
    • 3. Dahl, N., Samson, F., Thomas, N., Hu, L. J., Gong, W., Herman, G., Laporte, J., Kioschis, P., Poutska, A., and Mandel, J.-L. (1994). X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684). J. Med. Genet. 31: 922-924.
    • (1994) J. Med. Genet. , vol.31 , pp. 922-924
    • Dahl, N.1    Samson, F.2    Thomas, N.3    Hu, L.J.4    Gong, W.5    Herman, G.6    Laporte, J.7    Kioschis, P.8    Poutska, A.9    Mandel, J.-L.10
  • 5
    • 0029883081 scopus 로고    scopus 로고
    • X-linked myotubular myopathy: Refinement of the gene to a 280 kb region with new and highly informative microsatellite markers
    • 5. Hu, L., Laporte, J., Kioschis, P., Heyberger, S., Kretz, C., Poustka, A., Mandel, J.-L., and Dahl, N. (1996). X-linked myotubular myopathy: Refinement of the gene to a 280 kb region with new and highly informative microsatellite markers. Hum. Genet. 98: 178-181.
    • (1996) Hum. Genet. , vol.98 , pp. 178-181
    • Hu, L.1    Laporte, J.2    Kioschis, P.3    Heyberger, S.4    Kretz, C.5    Poustka, A.6    Mandel, J.-L.7    Dahl, N.8
  • 8
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • 8. Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J., Klauck, S., Poustka, A., and Dahl, N. (1996). A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet. 13: 175-182.
    • (1996) Nature Genet. , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3    Mandel, J.-L.4    Kioschis, P.5    Coy, J.6    Klauck, S.7    Poustka, A.8    Dahl, N.9
  • 10
    • 0026345290 scopus 로고
    • Construction, arraying and high-density screening of large insert libraries of human chromosomes X and 21: Their potential use as reference libraries
    • 10. Nizetic, D., Zehetner, G., Monaco, A. P., Gellen, L., Young, B. D., and Lehrach, H. (1992). Construction, arraying and high-density screening of large insert libraries of human chromosomes X and 21: Their potential use as reference libraries. Proc. Natl. Acad. Sci. USA 88: 3233-3237.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 3233-3237
    • Nizetic, D.1    Zehetner, G.2    Monaco, A.P.3    Gellen, L.4    Young, B.D.5    Lehrach, H.6
  • 11
    • 0027368589 scopus 로고
    • Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection
    • 11. Sedlacek, Z., Korn, B., Konecki, D., Siebenhaar, R., Coy, J. F., Kioschis, P., and Poustka, A. (1993). Construction of a transcription map of a 300 kb region around the human G6PD locus by direct cDNA selection. Hum. Mol. Genet. 2: 1865-1869.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1865-1869
    • Sedlacek, Z.1    Korn, B.2    Konecki, D.3    Siebenhaar, R.4    Coy, J.F.5    Kioschis, P.6    Poustka, A.7
  • 12
    • 0028077159 scopus 로고
    • Basal components of the transcription apparatus (RNA polymerase II, TATA-binding protein) contain activation domains: Is the repetitive C-terminal domain (CTD) of RNA polymerase II a "portable enhancer domain"?
    • 12. Seipel, K., Georgiev, O., Gerber, H. P., and Schaffner, W. (1994). Basal components of the transcription apparatus (RNA polymerase II, TATA-binding protein) contain activation domains: Is the repetitive C-terminal domain (CTD) of RNA polymerase II a "portable enhancer domain"? Mol. Reprod. Dev. 39: 215-225.
    • (1994) Mol. Reprod. Dev. , vol.39 , pp. 215-225
    • Seipel, K.1    Georgiev, O.2    Gerber, H.P.3    Schaffner, W.4
  • 13
    • 0028618270 scopus 로고
    • Predicting internal exons by oligonucleotide composition and discriminant analysis of splicable open reading frames
    • 13. Solovyev, V. V., Salamov, A. A., and Lawrence, C. B. (1994). Predicting internal exons by oligonucleotide composition and discriminant analysis of splicable open reading frames. Nucleic Acids Res. 22: 5156-5163.
    • (1994) Nucleic Acids Res. , vol.22 , pp. 5156-5163
    • Solovyev, V.V.1    Salamov, A.A.2    Lawrence, C.B.3
  • 14
    • 0026351408 scopus 로고
    • Locating protein-coding regions in human DNA sequences by a multiple sensor-neural approach
    • 14. Uberbacher, E. C., and Mural, R. J. (1991). Locating protein-coding regions in human DNA sequences by a multiple sensor-neural approach. Proc. Natl. Acad. Sci. USA 88: 11261-11265.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 11261-11265
    • Uberbacher, E.C.1    Mural, R.J.2
  • 15
    • 0028185620 scopus 로고
    • Recognize exons in genomic sequence using GRAIL II
    • 15. Xu, Y., Mural, R., Shah, M., and Uberbacher, E. (1994). Recognize exons in genomic sequence using GRAIL II. Genet. Eng. (N. Y.) 16: 241-253.
    • (1994) Genet. Eng. (N. Y.) , vol.16 , pp. 241-253
    • Xu, Y.1    Mural, R.2    Shah, M.3    Uberbacher, E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.