Two novel mutations in the ABCG5 gene, c.144 -1G>A and c.1523 delC, in a Mexican family with sitosterolemia
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- 作者：Ana Gabriela Colima Fausto ; QFBa ; b ; Juan Ramó ; n Gonzá ; lez Garcí ; a ; PhDa ; Luis Eduardo Wong Ley Madero ; PhDc ; Marí ; a Teresa Magañ ; a Torres ; PhDa ; maganamt@yahoo.com.mx" class="auth_mail" title="E-mail the corresponding author
- 关键词：Sitosterolemia ; ABCG5 gene ; c.144 -1G> ; A mutation ; c.1523 delCmutation ; First Mexican family with sitosterolemia ; Phenotypic heterogeneity
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：January-February 2016
- 年：2016
- 卷：10
- 期：1
- 页码：204-208
- 全文大小：635 K
文摘
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First Mexican family with sitosterolemia.
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Two new ABCG5 gene mutations, c.144 -1G>A and c.1523 delC.
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Two patients, compound heterozygotes, showed phenotypic heterogeneity.