PMC Links for Nucleotide (Select 215490050) - PMC

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Items: 13

Select item 44506721.

The LDL Receptor Gene: A Mosaic of Exons Shared with Different Proteins

Thomas C. Südhof, Joseph L. Goldstein, Michael S. Brown, David W. Russell

Science. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Science. 1985 May 17; 228(4701): 815–822. doi: 10.1126/science.2988123

PMCID:: PMC4450672

Article PDF–5.1M

Select item 3909582.

Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

V Lindgren, K L Luskey, D W Russell, U Francke

Proc Natl Acad Sci U S A. 1985 Dec; 82(24): 8567–8571. doi: 10.1073/pnas.82.24.8567

PMCID:: PMC390958

Summary Page Browse PDF–1.3M

Select item 69003683.

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis

Karen H.Y. Wong, Michal Levy‐Sakin, Walfred Ma, Nina Gonzaludo, Angel C.Y. Mak, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Zoe Grenville, Nicolas Wong, John P. Kane, Pui‐Yan Kwok, Mary J. Malloy, Clive R. Pullinger

Mol Genet Genomic Med. 2019 Dec; 7(12): e1007. Published online 2019 Oct 16. doi: 10.1002/mgg3.1007

PMCID:: PMC6900368

Article PDF–1.3M

Select item 68424824.

Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China

Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin, Michael J. Kutryk

BMC Med Genet. 2019; 20: 173. Published online 2019 Nov 9. doi: 10.1186/s12881-019-0901-0

PMCID:: PMC6842482

Article PDF–658K

Select item 66878665.

Significant association between RETN genetic polymorphisms and alcohol‐induced osteonecrosis of femoral head

Chang Liu, Feimeng An, Yuju Cao, Jiaqi Wang, Ye Tian, Huiqiang Wu, Jianzhong Wang

Mol Genet Genomic Med. 2019 Aug; 7(8): e822. Published online 2019 Jun 17. doi: 10.1002/mgg3.822

PMCID:: PMC6687866

Article PDF–667K

Select item 64899206.

Genetic diagnosis of familial hypercholesterolemia is associated with a premature and high coronary heart disease risk

Florent Séguro, Jean‐Pierre Rabès, Dorota Taraszkiewicz, Jean‐Bernard Ruidavets, Vanina Bongard, Jean Ferrières

Clin Cardiol. 2018 Mar; 41(3): 385–391. Published online 2018 Mar 25. doi: 10.1002/clc.22881

PMCID:: PMC6489920

Article PDF–1.0M

Select item 58914877.

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

Youmna Ghaleb, Sandy Elbitar, Petra El Khoury, Eric Bruckert, Valérie Carreau, Alain Carrié, Philippe Moulin, Mathilde Di-Filippo, Sybil Charriere, Harout Iliozer, Michel Farnier, Gérald Luc, Jean-Pierre Rabès, Catherine Boileau, Marianne Abifadel, Mathilde Varret

Eur J Hum Genet. 2018 Apr; 26(4): 570–578. Published online 2018 Jan 26. doi: 10.1038/s41431-017-0078-y