Citation
Rb. Wheeler et al., A new locus for variant late infantile neuronal ceroid lipofuscinosis - CLN7, MOL GEN MET, 66(4), 1999, pp. 337-338
Citations number
5
Categorie Soggetti
Molecular Biology & Genetics
Journal title
MOLECULAR GENETICS AND METABOLISM
ISSN journal
10967192
→ ACNP
Volume
66
Issue
4
Year of publication
1999
Pages
337 - 338
Database
ISI
SICI code
1096-7192(199904)66:4<337:ANLFVL>2.0.ZU;2-V
Abstract
To date two genes are known to be involved in variant LINCL, CLN5 and CLN6,
which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families
with a variant phenotype has been identified. Affected individuals have cur
vilinear bodies and fingerprint profiles on EM but are recombinant at CLN5
and CLN6. These families appear to represent a new locus. Homozygosity mapp
ing is being used to map this locus, which has been designated CLN7. (C) 19
99 Academic Press.