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Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.
Hum Genome Var. 2014 Nov 20;1:14021. doi: 10.1038/hgv.2014.21. eCollection 2014.
Hum Genome Var. 2014.
PMID: 27081511
Free PMC article.
Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Siddiqui SS, Bouazzaoui A, Abalkhail H, Aun R, Al-Allaf AF, AbuMansour I, Azhar Z, Ba-Hammam FA, Khan W, Athar M.
Al-Allaf FA, et al. Among authors: al allaf af.
Genomics. 2016 Jan;107(1):24-32. doi: 10.1016/j.ygeno.2015.12.001. Epub 2015 Dec 11.
Genomics. 2016.
PMID: 26688439
Free article.
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Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
Al-Allaf FA, Alashwal A, Abduljaleel Z, Taher MM, Bouazzaoui A, Abalkhail H, Al-Allaf AF, Athar M.
Al-Allaf FA, et al. Among authors: al allaf af.
Acta Biochim Pol. 2017;64(1):75-79. doi: 10.18388/abp.2016_1283. Epub 2016 Nov 23.
Acta Biochim Pol. 2017.
PMID: 27878139
Free article.
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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.
Srivastava AK, Wang Y, Huang R, Skinner C, Thompson T, Pollard L, Wood T, Luo F, Stevenson R, Polimanti R, Gelernter J, Lin X, Lim IY, Wu Y, Teh AL, Chen L, Aris IM, Soh SE, Tint MT, MacIsaac JL, Yap F, Kwek K, Saw SM, Kobor MS, Meaney MJ, Godfrey KM, Chong YS, Holbrook JD, Lee YS, Gluckman PD, Karnani N; GUSTO study group; Kapoor A, Lee D, Chakravarti A, Maercker C, Graf F, Boutros M, Stamoulis G, Santoni F, Makrythanasis P, Letourneau A, Guipponi M, Panousis N, Garieri M, Ribaux P, Falconnet E, Borel C, Antonarakis SE, Kumar S, Curran J, Blangero J, Chatterjee S, Kapoor A, Akiyama J, Auer D, Berrios C, Pennacchio L, Chakravarti A, Donti TR, Cappuccio G, Miller M, Atwal P, Kennedy A, Cardon A, Bacino C, Emrick L, Hertecant J, Baumer F, Porter B, Bainbridge M, Bonnen P, Graham B, Sutton R, Sun Q, Elsea S, Hu Z, Wang P, Zhu Y, Zhao J, Xiong M, Bennett DA, Hidalgo-Miranda A, Romero-Cordoba S, Rodriguez-Cuevas S, Rebollar-Vega R, Tagliabue E, Iorio M, D’Ippolito E, Baroni S, Kaczkowski B, Tanaka Y, Kawaji H, Sandelin A, Andersson R, Itoh M, Lassmann T; The FANTOM5 Consortium; Hayashizaki Y, Carninci P, Forrest ARR, Semple CA, Rosenthal EA, Shirts B, Amendola L, Gallego C, Horike-Pyne…
See abstract for full author list ➔
Srivastava AK, et al.
Hum Genomics. 2016 May 26;10 Suppl 1(Suppl 1):12. doi: 10.1186/s40246-016-0063-5.
Hum Genomics. 2016.
PMID: 27294413
Free PMC article.
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