Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1)

Genomics

Volumn 35, Issue 3, 1996, Pages 597-599

  Matthijs, Gert ^a   Legius, Eric ^a   Schollen, Els ^a   Vandenberk, Petra ^a   Jaeken, Jaak ^b   Barone, Rita ^c   Fiumara, Agata ^c   Visser, Gepke ^d   Lambert, Marie ^e   Cassiman, Jean Jacques ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITY OF CATANIA   (Italy)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY OF MONTREAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 16P; CONGENITAL DISORDER OF GLYCOSYLATION; FIBROBLAST; GENE MAPPING; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKER; GENETIC RECOMBINATION; HUMAN; HUMAN TISSUE; ISOELECTRIC FOCUSING; MULTIGENE FAMILY; PRIORITY JOURNAL; TELOMERE;

EID: 0030217955     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0404     Document Type: Article

References (11)

1. 1. Doggett, N. A., Goodwin, L. A., Tesmer, J. G., Meincke, L. J., Bruce, D. C., Clark, L. M., Altherr, M. R., Ford, A. A., Chi, H.-C., Marrone, B. L., Longmire, J. L., Lane, S. A., Whitmore, S. A., Lowenstein, M. G., Sutherland, R. D., Mundt, M. O., Knill, E. H., Bruno, W. J., Macken, C. A., Torney, D. C., Wu, J.-R., Griffith, J., Sutherland, G. R., Deaven, L. L., Callen, D. F., and Moyzis, R. K. (1995). An integrated physical map of human chromosome 16. Nature 377(Suppl.): 335-365.
2. 2. Gyapay, G., Morisette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and Weissenbach, J. (1994). The 1993-1994 Généthon human genetic linkage map. Nature Genet. 7: 246-339.
3. 3. Jaeken, J., and Carchon, H. (1993). The carbohydrate-deficient glycoprotein syndromes: An overview. J. Inher. Metab. Dis. 16: 813-820.
4. 4. Jaeken, J., Carchon, H., and Stibler, H. (1993). The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders? Glycobiology 3: 423-428.
5. 5. Lathrop, G. M., and Lalouel, J. M. (1984). Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 36: 460-465.
6. 6. Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F., Jaeken, J., Blennow, G., Strömme, P., Hanefeld, F., and Wahlström J. (1994). Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum. Mol. Genet. 3: 2037-2042.
7. 7. Ott, J. (1991). "Analysis of Human Genetic Linkage," 2nd ed., Johns Hopkins Univ. Press, Baltimore, MD.
8. 8. Schaid, D. J., and Sommer, S. S. (1994). Comparison of statistics for candidate-gene association studies using cases and parents. Am. J. Hum. Genet. 55: 402-409.
9. 9. Stibler, H., Blennow, G., Kristiansson, B., Lindehammer, H., and Hagberg, B. (1994). Carbohydrate-deficient glycoprotein syndrome: Clinical expression in adults with a new metabolic disease. J. Neurol. Neurosurg. Psychiatry. 57: 552-556.
10. 10. Terwilliger, J. D. (1995). A powerful method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. Am. J. Hum. Genet. 56: 777-787.
11. 11. Thomson, G. (1995). Mapping disease genes: Family-based association studies. Am. J. Hum. Genet. 57: 487-498.