@article{423c545c9d914dc19abbfd54088f6890,
title = "Linkage analysis of spinal muscular atrophy",
abstract = "Linkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to 5q11.2-q13.3. Localization of D5S6 by in situ hybridization refines the mapping of the defective gene to the region 5q12.2-q13. We also report the use of a highly informative PCR-based polymorphism with five alleles. This RFLP will be particularly useful for prenatal diagnosis where only old tissue samples from affected individuals are available. The high heterozygosity of this locus should also assist in identifying recombinants that will refine the genetic mapping of the mutation.",
author = "Daniels, {R. J.} and Thomas, {N. H.} and MacKinnon, {R. N.} and T. Lehner and J. Ott and Flint, {T. J.} and V. Dubowitz and J. Ignatius and M. Donner and K. Zerres and M. Rietschel and Cookson, {W. O.C.} and Brzustowicz, {L. M.} and Gilliam, {T. C.} and Davies, {K. E.}",
note = "Funding Information: We are grateful to Drs. Somer, Louhimo, and Krusus for patient referrals and to Dr. Robin Sherrington for access to unpublished data. We thank Graeme Suthers for helpful comments and Helen Blaber for assistance in the preparation of this manuscript. We also thank the Medical Research Council of Great Britain, the Muscular Dystrophy Group of Great Britain and Northern Ireland, the Muscular Dystrophy Association of the United States of America, the Finnish Muscular Dystrophy Association, the Deutsche Forschungsgeneinschaft, and the Deutsche Gesellschaft Bekampfung der Muskelkrankheiten, and the U.S. National Center for Human Genome Research (Grant HGOOOOSS) for financial support.",
year = "1992",
month = feb,
doi = "10.1016/0888-7543(92)90382-3",
language = "English (US)",
volume = "12",
pages = "335--339",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "2",
}