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Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis

✍ Scribed by Sharp, Julie ;Savukoski, Minna ;Wheeler, Ruth B. ;Harris, Juliette ;Järvelä, Irma ;Peltonen, Leena ;Gardiner, Mark ;Williams, Ruth


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
195 KB
Volume
57
Category
Article
ISSN
0148-7299

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Prenatal diagnosis of variant late infan
✍ Juhani Rapola; Jaana Lähdetie; Juha Isosomppi; Päivi Helminen; Maila Penttinen; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 216 KB 👁 2 views

The first prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL Finnish ; CLN5) is reported. The disease belongs to the group of progressive encephalopathies in children with psycho-motor deterioration, visual failure and premature death. Neurons and several extraneural