A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis (Articolo in rivista)

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  • A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis (Articolo in rivista) (literal)
Anno
  • 2002-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s00415-002-0849-3 (literal)
Alternative label
  • Mazzei R., Conforti Fl., Magariello A., Bravaccio C., Militerni R., Gabriele A.L., Sampaolo S., Patitucci A., Di Iorio G., Muglia M., Quattrone A. (2002)
    A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
    in Journal of neurology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Mazzei R., Conforti Fl., Magariello A., Bravaccio C., Militerni R., Gabriele A.L., Sampaolo S., Patitucci A., Di Iorio G., Muglia M., Quattrone A. (literal)
Pagina inizio
  • 1398 (literal)
Pagina fine
  • 1400 (literal)
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  • http://link.springer.com/content/pdf/10.1007%2Fs00415-002-0849-3.pdf (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 249 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 3 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 10 (literal)
Note
  • PubMe (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Dr. R. Mazzei, Dr. F. L.Conforti, Dr. A. Magariello, Dr. A. L. Gabriele, Dr. A. Patitucci, Dr. M. Muglia, Dr. A. Quattrone from Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone - Cosenza, Italy; Dr. C. Bravaccio, Dr. R. Militerni from Institute of Infantile Neuropsichiatry, University of Naples, Italy; Dr. S. Sampaolo, Dr. G. Di Iorio from Institute of Neurology, University of Naples, Italy. (literal)
Titolo
  • A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis (literal)
Abstract
  • We describe the clinical, neuropathological and molecular findings from a patient affected with neuronal ceroid lipofuscinosis with a juvenile onset (JNCL). She was a 9-year-old right-handed girl with a normal birth and early developmental milestones. At the age of 4 the early symptoms began. Skin biopsy showed granular osmiophilic deposits (GRODs).Because JNCL with GRODs is caused by mutations in the CNL1 gene, we performed a molecular investigation by direct sequencing of nine exons of the CNL1 gene. This analysis revealed a novel mutation in homozygous form in the exon 7 that caused an aminoacid substitution at codon 222 (Leu --> Pro). Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous form. (literal)
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