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Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1

✍ Scribed by Järvelä, Irma; Schleutker, Johanna; Haataja, Leena; Santavuori, Pirkko; Puhakka, Lea; Manninen, Tuula; Palotie, Aarno; Sandkuijl, Lodewijk A.; Renlund, Martin; White, Ray


Book ID
123351820
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
365 KB
Volume
9
Category
Article
ISSN
0888-7543

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Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy at risk for INCL, chorionic villi (CV) were studied using a novel