Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease)

AIM: The primary aim of this investigation was to examine genotype and clinical phenotype differences in individuals with juvenile neuronal ceroid lipofuscinosis (JNCL) who were homozygous for a common disease-causing deletion or compound heterozygous. The secondary aim was to cross-validate the Chi...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: ADAMS, HEATHER R, BECK, CHRISTOPHER A, LEVY, ERIKA, JORDAN, RACHEL, KWON, JENNIFER M, MARSHALL, FREDERICK J, VIERHILE, AMY, AUGUSTINE, ERIKA F, DE BLIECK, ELISABETH A, PEARCE, DAVID A, MINK, JONATHAN W
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 2010
Θέματα:
Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2895016/
https://ncbi.nlm.nih.gov/pubmed/20187884
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-8749.2010.03628.x
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