Search Results - "Patel, Dilipkumar D"

Degradation of LDLR protein mediated by ‘gain of function’ PCSK9 mutants in normal and ARH cells by Fasano, Tommaso, Sun, Xi-Ming, Patel, Dilipkumar D, Soutar, Anne K

“…Abstract Dominant gain-of-function mutations in proprotein convertase subtilisin kexin type 9 (PCSK9) cause familial hypercholesterolaemia (FH) and result in…”
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Adaptor protein Disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia by Eden, Emily R., Sun, Xi-Ming, Patel, Dilipkumar D., Soutar, Anne K.

“…Autosomal recessive hypercholesterolaemia (ARH), characterized clinically by severe inherited hypercholesterolaemia, is caused by recessive null mutations in…”
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Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1 by Eden, Emily R, Patel, Dilipkumar D, Sun, Xi-Ming, Burden, Jemima J, Themis, Michael, Edwards, Matthew, Lee, Philip, Neuwirth, Clare, Naoumova, Rossitza P, Soutar, Anne K

“…Familial hypercholesterolemia is an autosomal dominant disorder with a gene-dosage effect that is usually caused by mutations in the LDL receptor gene that…”
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Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expressin of ARH1 by Eden, Emily R, Patel, Dilipkumar D, Xi-Ming, Sun, Burden, Jemima J

“…Familial hypercholesterolemia is an autosomal dominant disorder with a gene-dosage effect that is usually caused by mutations in the LDL receptor gene that…”
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Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1 by Eden, Emily R., Patel, Dilipkumar D., Sun, Xi-Ming, Burden, Jemima J., Themis, Michael, Edwards, Matthew, Lee, Philip, Neuwirth, Clare, Naoumova, Rossitza P., Soutar, Anne K.

“…Familial hypercholesterolemia is an autosomal dominant disorder with a gene-dosage effect that is usually caused by mutations in the LDL receptor gene that…”
Get full text