Sandhoff disease in Cyprus: Population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

Human Genetics

Volumn 107, Issue 1, 2000, Pages 12-17

  Drousiotou, Anthi ^a   Stylianidou, Goula ^b   Anastasiadou, Violetta ^a   Christopoulos, George ^a   Mavrikiou, Eleni ^a   Georgiou, Theodoros ^a   Kalakoutis, Gabriel ^b   Oladimeji, Adebayo ^c   Hara, Yoji ^d   Suzuki, Kunihiko ^d   Furihata, Kenichi ^e   Ueno, Ichiro ^e   Ioannou, Panayiotis A ^a   Fensom, Anthony H ^c  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b Archbishop Makarios III Hospital   (Cyprus)

^c GUY S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^e SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; BETA N ACETYLHEXOSAMINIDASE B;

ARTICLE; BIOCHEMISTRY; CYPRUS; DELETION MUTANT; DNA DETERMINATION; ENZYME ASSAY; ENZYME BLOOD LEVEL; GENETIC SCREENING; GM2 GANGLIOSIDOSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; INTRON; LEUKOCYTE; MAJOR CLINICAL STUDY; NUCLEIC ACID BASE SUBSTITUTION; POPULATION GENETICS; PRIORITY JOURNAL; SANDHOFF DISEASE;

CHRISTIA;

EID: 0033904797     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000324     Document Type: Article

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