Type I Gaucher disease due to homozygosity for the 259T mutation in a bedouin patient

American Journal of Medical Genetics

Volumn 72, Issue 1, 1997, Pages 77-78

  Rockah, Rivka ^a   Narinsky, Roni ^a   Hatskelzon, Lev ^b   Frisch, Amos ^a,c  

^a TEL AVIV UNIVERSITY   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

Author keywords

Bedouin; Founder effect; Gaucher disease; Glucocere brosidase; Homozygosity

Indexed keywords

COMPLEMENTARY DNA; GLUCOSYLCERAMIDASE;

ADULT; ARAB; ARTICLE; CASE REPORT; GAUCHER DISEASE; GENE MUTATION; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; MALE; PRIORITY JOURNAL; SPLENOMEGALY; THROMBOCYTOPENIA;

ADULT; ARABS; FOUNDER EFFECT; GAUCHER DISEASE; GENOTYPE; GLUCOSYLCERAMIDASE; HAPLOTYPES; HOMOZYGOTE; HUMANS; MALE; POINT MUTATION;

EID: 0030882866     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971003)72:1<77::AID-AJMG16>3.0.CO;2-R     Document Type: Article

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