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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Khan, Arif, Chieng, Kwong S., Baheerathan, Aravindhan, Hussain, Nahin, Gosalakkal, Jayprakash
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Medknow Publications & Media Pvt Ltd 2013
Konular:
Case Report
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller