Mutation detection in the x-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

Human Molecular Genetics

Volumn 3, Issue 1, 1994, Pages 79-83

  Bradley, Linda A D ^a   Sweatman, Angela K ^a   Lovering, Ruth C ^a   Jones, Alison M ^a   Morgan, Gareth ^a   Levinsky, Roland J ^a   Kinnon, Christine ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE KINASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA CONFORMATION; DNA DETERMINATION; DNA POLYMORPHISM; DNA SEQUENCE; GENE INSERTION; HUMAN; HUMAN CELL; MALE; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; X LINKED AGAMMAGLOBULINEMIA;

AGAMMAGLOBULINEMIA; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA PRIMERS; DNA RESTRICTION ENZYMES; DNA TRANSPOSABLE ELEMENTS; HUMAN; LYMPHOCYTES; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM (GENETICS); RESTRICTION MAPPING; SUPPORT, NON-U.S. GOV'T; X CHROMOSOME;

EID: 0028047746     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/3.1.79     Document Type: Article

References (21)

1. Katz, F.E., Lovering, R.C., Bradley, L.A.D., Rigley, K.P., Brown, D., Cotter F., Chessels, J.M., Levinsky, R.J. and Kinnon, C. (1994) Leukemia, In Press
2. Chomczynski, P. and Sacchi, N. (1987) Anal. Biochem. 162, 156-159.
3. Kwan, S.-P., Kunkel, L., Bruns, G., Wedgwood, R.J., Latt, S. and Rosen, F.S. (1986) J. Clin. Invest. 77, 649-652.
4. Malcolm, S., de Saint Basile, G. de, Arveiler, B., Lau, Y.L., Szabo, P., Fischer, A., Griscelli, C., Debre, M., Mandel, J.L., Callard, R.E., Robertson, M.E., Goodship, J.A., Pembrey, M.E. and Levinsky, R.J. (1986)Hum. Genet. 71, 172-174.
5. Lovering, R., Middleton-Price, H.R., O’Reilly, M.-A.J., Genet, S.A., Parkar, M., Sweatman, A. K., Bradley, L.D., Alterman, L.A., Malcolm, S., Morgan, G., Levinsky, R.J. and Kinnon, C. (1993) Hum. Mol. Genet. 2, 139-141.
6. Parolini, O., Hejtmancik, J.F., Allen, R.C., Belmont, J.W., Lassiter, G.L., Henry, M.J., Barker, D.F. and Conley, M.E. (1993) Genomics 15, 342-349.
7. Vetrie, D., Vorechovsky, I., Sideras, P., Holland, J., Davies, A., Flinter, F., Hammarstrom, L., Kinnon, C., Levinsky, R., Bobrow, M., Smith, C.I.E. and Bentley, D. (1993) Nature 361, 226-233.
8. Tsukada, S., Saffron, D.C., Rawlings, D.J., Parolini, O., Allen, R.C., Klisak, I., Sparkes, R.S., Kubagawa, H., Mohandas, T., Quan, S., Belmont, J.W., Cooper, M.D., Conley, M.E. and Witte, O. (1993) Cell 72, 279-290.
9. Desidero, S. (1993) Nature 361, 202-203.
10. Kinnon, C., Hinshelwood, S., Levinsky, R.J. and Lovering, R.C. (1993) Immunol. Today 14, 554-558.
11. Perimutter, R.M., Levin, S.D., Appleby, M.W., Anderson, S.J. and Alberola-Ila, J. (1993) Anna. Rev. Immunol. 11, 451-499.
12. Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. and Sekiya, T. (1989) Proc. Natl. Acad. Sci. USA 86, 2766-2770.
13. DE Weers, M., Mensink, R.G.J., Kraakman, M.E.M., Schuurman, R.K.B. and Hendriks, R.W (1994) Hum. Mol. Genet, this issue.
14. Eck, M. J., Shoelson, S.E. and Harrison, S.C. (1993) Nature 362, 87-91.
15. Waksman, G., Shoelson, S.E., Pant, N., Cowbum, D. and Kuriyan, J. (1993) Cell 72, 779-790.
16. Mayer, B. J., Jackson, P.K., Van Etten, R.A. and Baltimore, D. (1992) Mol. Cell. Biol. 12, 609-618.
17. Alterman, L.A., de Alwis, M., Genet, S., Lovering, R., Middleton-Price, H., Morgan, G., Jones, A., Malcolm, S., Levinsky, R.L. and Kinnon, C. (1993)J. Immunol. Meth. 166, 111-116.
18. Rawlings, D.J., Saffron, D.C., Tsukada, S., Largaespada, D.A., Grimaldi, J.C., Cohen, L., Mohr, R.N., Bazan, J.F., Howard, M., Copeland, N.G., Jenkins, N.A. and Witte, O.N. (1993) Science 261, 358-361.
19. Thomas, J.D., Sideras, P., Smith, C.I.E., Vorechovsky, I., Chapman, V. and Paul, W.E. (1993) Science 261, 355-358.
20. Conley, M.E., Berks, A.W., Herrod, H.G. and Puck, J.M. (1991) J. Pediat. 119, 392-397.
21. Fleisher, T.A., White, R.M., Broder, S., Nissley, S.P., Blaese, R.M., Mulvihil, U.J., Olive, G. and Waldmann, T.A. (1980) New Engl. J. Med. 302, 1429-1433.