Two new mild homozygous mutations in Gaucher disease patients: Clinical signs and biochemical analyses

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 437-443

  Cormand, Bru ^a   Grinberg, Daniel ^a   Gort, Laura ^b   Fiumara, Agata ^c   Barone, Rita ^c   Vilageliu, Lluïsa ^a   Chabás, Amparo ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Bioquimica Clinica Barcelona   (Spain)

^c UNIVERSITY OF CATANIA   (Italy)

Author keywords

Gaucher disease; genotype phenotype correlation; mild mutations; mutant glucocerebrosidase

Indexed keywords

GLUCOSYLCERAMIDASE; PHOSPHATIDYLSERINE; SPHINGOLIPID ACTIVATOR PROTEIN;

ADULT; ARTICLE; CASE REPORT; ENZYME ACTIVATION; GAUCHER DISEASE; GENE EXPRESSION; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; LYSOSOME STORAGE DISEASE; MACROPHAGE ACTIVATION; MALE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; BETA-GLUCOSIDASE; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HOMOZYGOTE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0031005312     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970627)70:4<437::AID-AJMG19>3.0.CO;2-I     Document Type: Article

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