Article
A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.
Molecular genetics and metabolism - 1 Apr 1999
Wheeler R B, Sharp J D, Mitchell W A, Bate S L, Williams R E, Lake B D, Gardiner R M
Abstract excerpt
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 curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus,...
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