First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

Autor: Kleijer, W, Diggelen, Otto, Keulemans, JLM, Losekoot, M, Garritsen, VH, Stroink, H (Hans), Majoor - Krakauer, Danielle, Franken, PF, Eurlings, MCM, Taschner, PEM, Los, FJ, Galjaard, Robert-Jan
Přispěvatelé: Clinical Genetics, Neurology
Rok vydání: 2001
Zdroj: Prenatal Diagnosis, 21, 99-101. John Wiley & Sons Ltd.
ISSN: 0197-3851
Databáze: OpenAIRE