| 1 | ARH, LDLRAP1
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| Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia
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| Shaik NA, Al-Qahtani F, Nasser K, Jamil K, Alrayes NM, Elango R, Awan ZA, Banaganapalli B.
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| J Gene Med. Jun;22(6):e3176. doi: 10.1002/jgm.3176. Epub 2020 Mar 3. 2020
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| 2 | ARH, LDLRAP1
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| Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction
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| Lee C, Cui Y, Song J, Li S, Zhang F, Wu M, Li L, Hu D, Chen H.
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| Lipids Health Dis. Apr 11;18(1):95. doi: 10.1186/s12944-019-1042-3. 2019
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| 3 | ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
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| Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
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| Rahalkar AR, Hegele RA.
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| Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
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| 4 | LDLRAP1, ARH
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| Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.
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| Quagliarini F, Vallvˇ JC, Campagna F, Alvaro A, Fuentes-Jimenez FJ, Sirinian MI, Meloni F, Masana L, Arca M.
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| Mol Genet Metab 92(3):243-8. Epub 2007 Aug 7. 2007
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| 5 | LDLRAP, ARH, DAB2
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| Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia.
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| Eden ER, Sun XM, Patel DD, Soutar AK.
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| Hum Mol Genet 16(22):2751-9. Epub 2007 Aug 29. 2007
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| 6 | ARH, LDLRAP1
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| Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
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| Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH.
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| Science 292(5520):1394-8. 2001
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