Publications:

Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

Heart (British Cardiac Society)

Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,

Publication Date: 2021-12

Variant appearance in text: LDLR: Ser421Arg

PubMed Link: 34521694

Variant Present in the following documents:

• heartjnl-2021-319742supp001.pdf

View BVdb publication page

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Journal Of The American Heart Association

Doi, Takahito T; Hori, Mika M; Harada-Shiba, Mariko M; Kataoka, Yu Y; Onozuka, Daisuke D; Nishimura, Kunihiro K; Nishikawa, Ryo R; Tsuda, Kosuke K; Ogura, Masatsune M; Son, Cheol C; Miyamoto, Yoshihiro Y; Noguchi, Teruo T; Shimokawa, Hiroaki H; Yasuda, Satoshi S

Publication Date: 2021-02-16

Variant appearance in text: LDLR: 1263C>A; Ser421Arg; rs752942769

PubMed Link: 33533259

Variant Present in the following documents:

• JAH3-10-e018263.pdf
• JAH3-10-e018263-s001.pdf

View BVdb publication page