Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick Type C disease patients

Molecular Genetics and Metabolism

Volumn 107, Issue 4, 2012, Pages 716-720

  Rodríguez Pascau, Laura ^a,b   Toma, Claudio ^a,b   Macías Vidal, Judit ^b,c,d   Cozar, Mónica ^a,b   Cormand, Bru ^a,b   Lykopoulou, Lilia ^e   Coll, Maria Josep ^b,c,d   Grinberg, Daniel ^a,b   Vilageliu, Lluïsa ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

^e UNIVERSITY OF ATHENS   (Greece)

Author keywords

Array CGH; Gene deletions; Niemann Pick type C; NPC1 gene; QMPSF; SNP analysis

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME DELETION; CLINICAL FEATURE; EXON; GENE; GENE DELETION; GENETIC ANALYSIS; HUMAN; INFANT; MISSENSE MUTATION; NIEMANN PICK DISEASE; NPC 1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; BASE SEQUENCE; CARRIER PROTEINS; CHILD, PRESCHOOL; EXONS; FATAL OUTCOME; GENE ORDER; HUMANS; INFANT; INTRONS; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASE, TYPE C; PEDIGREE; SEQUENCE DELETION;

EID: 84869862007     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.004     Document Type: Article

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