Niemann-Pick type C disease: A novel NPC1 mutation segregating in a Greek island

Clinical Genetics

Volumn 85, Issue 6, 2014, Pages 543-547

  Mavridou, I ^a   Cozar, M ^b   Douzgou, S ^a   Xaidara, A ^c   Lianou, D ^d   Vanier, M T ^e   Dimitriou, E ^a   Grinberg, D ^b   Vilageliu, L ^b   Michelakakis, H ^a  

^a Institute of Child Health   (Greece)

^b UNIVERSITY OF BARCELONA   (Spain)

^c UNIVERSITY OF ATHENS   (Greece)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^e HOSPICES CIVILS DE LYON   (France)

Author keywords

Greece; Niemann Pick type C disease; Novel NPC1 mutation

Indexed keywords

CHITOTRIOSIDASE; MIGLUSTAT; CARRIER PROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; EXON; FEMALE; GAIT DISORDER; GAZE PARALYSIS; GENE; GENE SEQUENCE; GENOME; GREECE; HAPLOTYPE; HEPATOSPLENOMEGALY; HOMOZYGOSITY; HUMAN; HYPERTRANSAMINASEMIA; INTRAUTERINE GROWTH RETARDATION; JAUNDICE; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NIEMANN PICK DISEASE; NIEMANN PICK TYPE C DISEASE; NPC1 GENE; PHOTOTHERAPY; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPLENOMEGALY; TENDON REFLEX; TREMOR; ADULT; EPIDEMIOLOGY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; ISLAND (GEOLOGICAL); MUTATION; NIEMANN-PICK DISEASE, TYPE C; PATHOPHYSIOLOGY; PEDIGREE;

ADULT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GREECE; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISLANDS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C; PEDIGREE;

EID: 84899490187     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12200     Document Type: Article

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