Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson’s disease patients

Detection of conformational shifts and mutations in exon 8 from the atp7b gene in Cuban Wilson’s disease patients

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, tur...

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Bibliographic Details
Main Authors: Yulia Clark, Teresa Collazo, Caridad Ruenes, Elsa García, Zoe Robaina, Trini Fragoso, Gabriel Rodríguez, Yaixa Piloto, Georgina Espinosa, Carlos Maragoto, Héctor Vera, Idalmis García, Lídice Reyes, Carlos Castañeda
Format: Article
Language:English
Published: Elfos Scientiae 2011-06-01
Series:Biotecnología Aplicada
Subjects:
Wilson’s disease
mutation L708P
SSCP
Online Access:http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1027-28522011000200004&tlng=en

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http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S1027-28522011000200004&tlng=en

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