Exon-intron structure of a 2.7-kb Transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity

Genomics

Volumn 42, Issue 1, 1997, Pages 170-172

  Pook, Mark A ^a   Carvajal, Jaime J ^a   Doudney, Kit ^a   Hillermann, Renate ^a   Chamberlain, Susan ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITIDE; PHOSPHATIDYLINOSITOL 4 PHOSPHATE KINASE;

ALTERNATIVE RNA SPLICING; ARTICLE; COSMID; ENZYME ACTIVITY; EXON; FRIEDREICH ATAXIA; GENE STRUCTURE; GENETIC TRANSCRIPTION; INTRON; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

EID: 0031570342     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4726     Document Type: Article

References (5)

1. 1. Campuzano, V., Montermini, L., Molto, M. D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Canizares, J., Koutnikova, H., Bidichandani, S. I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P. I., Di Donato, S., Mandel, J-L., Cocozza, S., Koenig, M., and Pandolfo, M. (1996). Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA repeat expansion. Science 271: 1423-1427.
2. 2. Carvajal, J. J., Pook, M. A., Doudney, K., Hillermann, R., Wilkes, D., Al-Mahdawi, S., Williamson, R., and Chamberlain, S. (1995). Friedreich's ataxia: A defect in signal transduction? Hum. Mol. Genet. 4: 1411-1419.
3. 3. Carvajal, J. J., Pook, M. A., dos Santos, M., Doudney, K., Hillermann, R., Minogue, S., Williamson, R., Hsuan, J. J., and Chamberlain, S. (1996). The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet. 14: 157-162.
4. 4. Beebe, S. J., Oyen, O., Sandberg, M., Froysa, A., Hansson, V., and Jahnsen, T. (1990). Molecular cloning of a tissue-specific protein kinase (C gamma) from human testis-representing a third isoform for the catalytic subunit of cAMP-dependent protein kinase. Mol. Endocrinol. 4: 465-475.
5. 5. Riley, J., Butler, R., Ogilvie, D., Finniear, R., Jenner, D., Powell, S., Anand, R., Smith, J. C., and Markham, A. F. (1990). A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res. 18: 2887-2890.