Gaucher disease: Frequency of the N370S mutation in the Greek population

Clinical Genetics

Volumn 78, Issue 2, 2010, Pages 195-196

  Dimitriou, E ^a   Moraitou, M ^a   Troungos, C ^b   Schulpis, K ^a   Michelakakis, H ^a  

^a Ag Sophia Children's Hospital   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; GENOMIC DNA; N370S PROTEIN; PROTEIN; UNCLASSIFIED DRUG; GLUCOSYLCERAMIDASE;

ENZYME ACTIVITY; GAUCHER DISEASE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENOTYPE; GREECE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LETTER; MUTATIONAL ANALYSIS; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL; ADOLESCENT; ADULT; CHILD; ENZYMOLOGY; GENETICS; MUTATION; PATIENT REFERRAL;

ADOLESCENT; ADULT; CHILD; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; GREECE; HOMOZYGOTE; HUMANS; MUTATION; REFERRAL AND CONSULTATION; YOUNG ADULT;

EID: 80052550579     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01381.x     Document Type: Letter

References (13)

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