Molecular diagnosis of finnish type infantile neuronal ceroid lipofuscinosis by restriction fragment length polymorphism and oligonucleotide ligation assay

Clinical Chemistry

Volumn 44, Issue 11, 1998, Pages 2373-2376

  Romppanen, Eeva Liisa ^a   Valtonen, Pirjo ^a   Mononen, Tarja ^a   Mononen, Ilkka ^a  

^a KUOPIO UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FINLAND; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HETEROZYGOTE DETECTION; HUMAN; NEURONAL CEROID LIPOFUSCINOSIS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0031728984     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.11.2373     Document Type: Article

References (8)

1. Santavuori P, Haltia M, Rapola J. Infantile type of so-called neuronal ceroid-lipofuscinosis. Develop Med Child Neurol 1974;16:644-53.
2. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;376:584-7.
3. Landegren U, Kaiser R, Sanders J, Hood L. A ligase-mediated gene detection technique. Science 1988;241:1077-80.
4. Nickerson DA, Kaiser R, Lappin S, Stewart J, Hood L, Landegren U. Automated DNA diagnostics using an ELISA based oligonucleotide ligation assay. Proc Natl Acad Sci U S A 1990;87:8923-7.
5. Uvebrandt P, Hagberg B. Neuronal ceroid lipofuscinosis in Scandinavia. Epidemiology and clinical pictures. Neuropediatrics 1997;28:6-8.
6. Delahunty CM, Ankener W, Brainerd S, Nickerson DA, Mononen IT. Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay. Clin Chem 1995;41:59-61.
7. Romppanen E-L, Mononen I. Carrier detection in aspartylglycosaminuria. In: Mononen I, Aronson NN, eds. Lysosomal storage disease: aspartylglycosaminuria. Heidelberg: Springer-Verlag, 1997:153-64.
8. Nollau P, Wagener C. Methods for detection of point mutations: performance and quality assessment. Clin Chem 1997;43:1114-28.