Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

American Journal of Hematology

Volumn 87, Issue 4, 2012, Pages 377-383

  Zhang, Clarence K ^a   Stein, Philip B ^a   Liu, Jun ^a   Wang, Zuoheng ^b   Yang, Ruhua ^a   Cho, Judy H ^a   Gregersen, Peter K ^c   Aerts, Johannes M F G ^d   Zhao, Hongyu ^a   Pastores, Gregory M ^e   Mistry, Pramod K ^a,c  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY   (United States)

^c NORTH SHORE UNIVERSITY HOSPITAL   (United States)

^d UNIVERSITY OF AMSTERDAM   (Netherlands)

^e NEW YORK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLSPHINGOSINE; SPHINGOSINE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CLN8 GENE; CONTROLLED STUDY; DISEASE SEVERITY; DNA MODIFICATION; GAUCHER DISEASE; GENE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; HOMOZYGOSITY; HUMAN; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; NEURONAL CEROID LIPOFUSCINOSIS; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN FIBROBLAST;

ALLELES; CELLS, CULTURED; EPISTASIS, GENETIC; FEMALE; FIBROBLASTS; GAUCHER DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; GERMANY; GLUCOSYLCERAMIDASE; HOMOZYGOTE; HUMANS; JEWS; MACROPHAGES; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSYCHOSINE; SEVERITY OF ILLNESS INDEX;

EID: 84862776523     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23118     Document Type: Article

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