%0 Journal Article
%T Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson¡¯s disease patients
%A Clark
%A Yulia
%A Collazo
%A Teresa
%A Ruenes
%A Caridad
%A Garc¨ªa
%A Elsa
%A Robaina
%A Zoe
%A Fragoso
%A Trini
%A Rodr¨ªguez
%A Gabriel
%A Piloto
%A Yaixa
%A Espinosa
%A Georgina
%A Maragoto
%A Carlos
%A Vera
%A H¨¦ctor
%A Garc¨ªa
%A Idalmis
%A Reyes
%A L¨ªdice
%A Casta£¿eda
%A Carlos
%J Biotecnolog£¿-a Aplicada
%D 2011
%I Scientific Electronic Library Online
%X wilson¡¯s disease is a hereditary disorder of autosomal recessive inheritance that can cause irreversible, potentially lethal lesions to liver and brain. its molecular cause is the appearance of mutations in the atp7b gene. a total of 379 different disease-producing mutations are currently known, turning the molecular diagnosis of this disorder into a formidable challenge. the present study used single-strand conformational polymorphism for the detection of conformational changes in exon 8 of this gene. two shifts distinct from the normal allele, denominated b and c, were detected and mapped to mutations l708p and 2304dupc in heterozygosis. allelic frequencies for these mutations in 72 cuban wilson¡¯s disease patients were 2 and 0.7%, respectively.
%K wilson¡¯s disease
%K mutation l708p
%K sscp.
%U http://scielo.sld.cu/scielo.php?script=sci_abstract&pid=S1027-28522011000200004&lng=en&nrm=iso&tlng=en