Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children
| Autor: | Al-Allaf, Faisal A., Alashwal, Abdullah, Abduljaleel, Zainularifeen, Taher, Mohiuddin M., Siddiqui, Shahid S., Bouazzaoui, Abdellatif, Abalkhail, Hala, Aun, Rakan, Al-Allaf, Ahmad F., AbuMansour, Iman, Azhar, Zohor, Ba-Hammam, Faisal A., Khan, Wajahatullah, Athar, Mohammad |
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| Zdroj: | In Genomics January 2016 107(1):24-32 |
| Databáze: | ScienceDirect |
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