메뉴 건너뛰기




Volumn 39, Issue 3, 1997, Pages 247-253

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): Linkage disequilibrium and founder effect in Scandinavian families

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DENMARK; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC LINKAGE; HUMAN; NORWAY; PRIORITY JOURNAL; SCANDINAVIA; SWEDEN;

EID: 0031081725     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.4488     Document Type: Article
Times cited : (51)

References (14)
  • 3
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
    • Hästbacka, J., de la Chapelle, A., Kaitila, I., Sistonen, P., Weaver, A., and Lander, E. S. (1992). Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland. Nature Genet. 2: 204-211.
    • (1992) Nature Genet. , vol.2 , pp. 204-211
    • Hästbacka, J.1    De La Chapelle, A.2    Kaitila, I.3    Sistonen, P.4    Weaver, A.5    Lander, E.S.6
  • 5
    • 0027290048 scopus 로고
    • Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders
    • Hagberg, B., Blennow, G., Kristiansson, B., and Stibler, H. (1993). Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders. Pediatr. Neurol. 9: 255-262.
    • (1993) Pediatr. Neurol. , vol.9 , pp. 255-262
    • Hagberg, B.1    Blennow, G.2    Kristiansson, B.3    Stibler, H.4
  • 7
    • 0027440619 scopus 로고
    • The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders?
    • Jaeken, J., Carchon, H., and Stibler, H. (1993). The carbohydrate-deficient glycoprotein syndromes: Pre-Golgi and Golgi disorders? Glycobiology 3: 423-428.
    • (1993) Glycobiology , vol.3 , pp. 423-428
    • Jaeken, J.1    Carchon, H.2    Stibler, H.3
  • 8
    • 0026268002 scopus 로고
    • The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement
    • Jaeken, J., Stibler, H., and Hagberg, B. (Eds.) (1991). The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr. Scand. 375(SuppL): 1-71.
    • (1991) Acta Paediatr. Scand. , vol.375 , Issue.SUPPL. , pp. 1-71
    • Jaeken, J.1    Stibler, H.2    Hagberg, B.3
  • 9
    • 0028894185 scopus 로고
    • Linkage disequilibrium as a gene mapping tool
    • Jorde, L. B. (1995). Linkage disequilibrium as a gene mapping tool. Am. J. Hum. Genet. 56: 11-14.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 11-14
    • Jorde, L.B.1
  • 10
    • 0028131707 scopus 로고
    • Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
    • Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F., Jaeken, J., Blennow, G., Stromme, P., Hanefeld, F., and Wahlstrom, 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.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 2037-2042
    • Martinsson, T.1    Bjursell, C.2    Stibler, H.3    Kristiansson, B.4    Skovby, F.5    Jaeken, J.6    Blennow, G.7    Stromme, P.8    Hanefeld, F.9    Wahlstrom, J.10
  • 12
    • 0025775843 scopus 로고
    • Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome
    • Stibler, H., Jaeken, J, and Kristiansson, B. (1991). Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Pediatr. Scand. 375(Suppl.): 21-31.
    • (1991) Acta Pediatr. Scand. , vol.375 , Issue.SUPPL. , pp. 21-31
    • Stibler, H.1    Jaeken, J.2    Kristiansson, B.3
  • 14
    • 0029585865 scopus 로고
    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
    • Van Schaftingen, E., and Jaeken, J. (1995). Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 377: 318-320.
    • (1995) FEBS Lett. , vol.377 , pp. 318-320
    • Van Schaftingen, E.1    Jaeken, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.