Ala519Thr mutation in exon 11 of LDL receptor gene in members of a Malaysian family with hypercholesterolaemia

• Main Authors: Junit, S.M., Othman, S., Yusof, Rohana, Billett, M.A., Harun, F.
• Format: Article
• Language: English
• Published: 2003
• Subjects: R Medicine
• Online Access: http://eprints.um.edu.my/7145/1/Ala519Thr_mutation_in_exon_11of_LDL_receptor_gene_in_member.pdf; http://eprints.um.edu.my/7145/
• Institution: Universiti Malaya

We report a case of a Familial Hypercholesterolaemic (FH) patient (FH1) and her family members. They are Malaysian of Indian origin with evidence of consanguinity in the parents. We characterised the LDL receptor gene mutation in FH1, her brother (S1) and their mother, P2. The father (P1) died of co...