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Title : First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis - de Vries_1999_Prenat.Diagn_19_559 |
Author(s) : de Vries BB , Kleijer WJ , Keulemans JL , Voznyi YV , Franken PF , Eurlings MC , Galjaard RJ , Losekoot M , Catsman-Berrevoets CE , Breuning MH , Taschner PE , van Diggelen OP |
Ref : Prenat Diagn , 19 :559 , 1999 |
Abstract : de Vries_1999_Prenat.Diagn_19_559 |
ESTHER : de Vries_1999_Prenat.Diagn_19_559 |
PubMedSearch : de Vries_1999_Prenat.Diagn_19_559 |
PubMedID: 10416973 |
Gene_locus related to this paper: human-PPT1 |