BibTex format
@article{Gardiner:1990:10.1016/0888-7543(90)90297-8,
author = {Gardiner, M and Sandford, A and Deadman, M and Poulton, J and Cookson, W and Reeders, S and Jokiaho, I and Peltonen, L and Eiberg, H and Julier, C},
doi = {10.1016/0888-7543(90)90297-8},
journal = {Genomics},
pages = {387--390},
title = {Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.},
url = {http://dx.doi.org/10.1016/0888-7543(90)90297-8},
volume = {8},
year = {1990}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - The ceroid-lipofuscinoses are a group of inherited neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigment in neurons and other cell types. The underlying biochemical defect is unknown. Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) displays autosomal recessive inheritance. Genetic linkage studies were undertaken to determine the chromosomal location of the Batten disease mutation (CLN3). Following identification of linkage to the haptoglobin locus, linkage analysis has been carried out in 42 families by using DNA markers for loci on the long arm of human chromosome 16. The maximal lod score between Batten disease and the locus D16S148 calculated for combined sexes is 6.05 at a recombination fraction theta = 0.00. Multilocus analysis using five loci indicated the most likely order to be HP-D16S151-D16S150-CLN3-D16S148-D16S147. The maximal location score for CLN3 was 48 (equivalent to a lod score of 10.4) in that interval within this fixed marker map.
AU - Gardiner,M
AU - Sandford,A
AU - Deadman,M
AU - Poulton,J
AU - Cookson,W
AU - Reeders,S
AU - Jokiaho,I
AU - Peltonen,L
AU - Eiberg,H
AU - Julier,C
DO - 10.1016/0888-7543(90)90297-8
EP - 390
PY - 1990///
SN - 0888-7543
SP - 387
TI - Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.
T2 - Genomics
UR - http://dx.doi.org/10.1016/0888-7543(90)90297-8
UR - https://www.ncbi.nlm.nih.gov/pubmed/2249854
VL - 8
ER -