Novel CLN1 mutation with atypical juvenile neuronal ceroid lipofuscinosis

We detected a novel CLN1 gene mutation (p.Arg151X, heterogenous) in a 12-year-old boy. Low level of palmitoyl protein thioesterase and granular inclusion pattern in lymphocytes were also consistent with infantile Neuronal ceroid lipofuscinosis (INCL). However, the clinical phenotype was that of atyp...

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Autors principals: Khan, Arif, Chieng, Kwong S., Baheerathan, Aravindhan, Hussain, Nahin, Gosalakkal, Jayprakash
Format: Artigo
Idioma:Inglês
Publicat: Medknow Publications & Media Pvt Ltd 2013
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3680897/
https://ncbi.nlm.nih.gov/pubmed/23772246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.111424
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