CLN8 disease caused by large genomic deletions.
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ABSTRACT:
SUBMITTER: Beesley C
PROVIDER: S-EPMC5241206 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Publications
CLN8 disease caused by large genomic deletions.
Beesley Clare C Guerreiro Rita J RJ Bras Jose T JT Williams Ruth E RE Taratuto Ana Lia AL Eltze Christin C Mole Sara E SE
Molecular genetics & genomic medicine 20161123 1
<h4>Background</h4>The presence of deletions can complicate genetic diagnosis of autosomal recessive disease.<h4>Method</h4>The DNA of patients was analyzed in a diagnostic setting.<h4>Results</h4>We present three unrelated patients each carrying deletions that encompass the 37 kb <i>CLN8</i> gene and discuss their phenotype. Two of the cases were hemizygous for a mutant allele - their deletions unmasked a mutation in <i>CLN8</i> on the other chromosome.<h4>Conclusion</h4>Microarray analysis is ...[more]
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