Premium
Linkage analysis of late‐infantile neuronal ceroid‐lipofuscinosis (CLN2) using markers on chromosome 16p
Author(s) -
Williams R.,
Mitchison H.,
McKay T.,
Järvelä I.,
Gardiner R. M.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710279
Subject(s) - neuronal ceroid lipofuscinosis , genetics , biology , linkage (software) , human genetics , genetic linkage , chromosome , allele , gene
Conclusion These results provide further evidence of non‐allelic genetic heterogeneity within the disorders grouped together as the neuronal ceroid‐lipofuscinoses. There are at least three mutations at different loci involved in the pathogenesis of these disorders. The discrepancy in the extent of the regions excluded using data from the families with classical CLN2 and families with Finnish variant late‐infantile NCL is due to the smaller number of families segregating for Finnish variant late‐infantile NCL.