Characterization of variants in the glucosylceramide synthase gene and their association with Type 1 gaucher disease severity

Human Mutation

Volumn 34, Issue 10, 2013, Pages 1396-1403

  Alfonso, Pilar ^a,b,c   Navascués, Joaquín ^b,d   Navarro, Silvia ^e   Medina, Pilar ^e   Bolado Carrancio, Alfonso ^f   Andreu, Vanesa ^b,c   Irún, Pilar ^a,c,d   Rodríguez Rey, José Carlos ^f   Pocoví, Miguel ^a,c,d   España, Francisco ^e   Giraldo, Pilar ^a,b,c  

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

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c INSTITUTO ARAGONÉS DE CIENCIAS DE LA SALUD   (Spain)

^d UNIVERSITY OF ZARAGOZA   (Spain)

^e HOSPITAL UNIVERSITARIO LA FE   (Spain)

^f UNIVERSITY OF CANTABRIA   (Spain)

Author keywords

Gaucher disease; Glucosylceramide synthase; Phenotype variability; UGCG

Indexed keywords

COMPLEMENTARY DNA; GLUCOSYLCERAMIDE; NUCLEAR PROTEIN;

ADULT; ARTICLE; CELL STRAIN COS7; CELL STRAIN HEPG2; CLINICAL TRIAL; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GAUCHER DISEASE; GEL MOBILITY SHIFT ASSAY; GENETIC ASSOCIATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROMOTER REGION; SCORING SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

GAUCHER DISEASE; GLUCOSYLCERAMIDE SYNTHASE; PHENOTYPE VARIABILITY; UGCG;

ADOLESCENT; ADULT; AGED; ALLELES; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; COS CELLS; FEMALE; GAUCHER DISEASE; GENE EXPRESSION; GENES, REPORTER; GENETIC ASSOCIATION STUDIES; GENOTYPE; GLUCOSYLTRANSFERASES; HEP G2 CELLS; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, GENETIC; PROMOTER REGIONS, GENETIC; YOUNG ADULT;

EID: 84884530651     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22381     Document Type: Article

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