کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
9157718 | 1574728 | 2005 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
کاردیولوژی و پزشکی قلب و عروق
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia](/preview/png/9157718.png)
چکیده انگلیسی
The third proband (D.F.) had a less severe lipoprotein phenotype which was similar to that of heterozygous FHBL and appeared to be inherited as a co-dominant trait. However, he had no mutations in apo B gene. He was found to be a compound heterozygote for two missense mutations (D384A and G661A), involving highly conserved regions of MTP. Since this proband was also homozygous for É2 allele of apolipoprotein E (apo E), it is likely that his hypobetalipoproteinemia derives from a combined effect of a mild MTP deficiency and homozygosity for apo E2 isoform.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Atherosclerosis - Volume 180, Issue 2, June 2005, Pages 311-318
Journal: Atherosclerosis - Volume 180, Issue 2, June 2005, Pages 311-318
نویسندگان
Enza Di Leo, Sandra Lancellotti, Junia Y. Penacchioni, Angelo B. Cefalù, Maurizio Averna, L. Pisciotta, Stefano Bertolini, Sebastiano Calandra, Carlo Gabelli, Patrizia Tarugi,