Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.

Journal of inherited metabolic disease

Volumn 29, Issue 4, 2006, Pages 591-

  Michelakakis, Helen ^a   Moraitou, Marina ^a   Dimitriou, Evagelia ^a   Santamaria, Raul ^a   Sanchez, Gessami ^a   Gort, Laura ^a   Chabas, Amparo ^a   Grinberg, Daniel ^a   Dassopoulou, Maria ^a   Fotopoulos, Spyros ^a   Vilageliu, Lluisa ^a  

^a Institute of Child Health   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLUCOSIDASE; RESTRICTION ENDONUCLEASE;

ALBANIA; ALLELE; ARTICLE; ETHNOLOGY; GAUCHER DISEASE; GENETICS; GENOTYPE; GREECE; HOMOZYGOTE; HUMAN; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

ALBANIA; ALLELES; BETA-GLUCOSIDASE; DNA RESTRICTION ENZYMES; GAUCHER DISEASE; GENOTYPE; GREECE; HOMOZYGOTE; HUMANS; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION;

EID: 39049183267     PISSN: None     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0316-x     Document Type: Article

References (0)