LDLR c.1306G>A ;(p.V436M)

Variant ID: 19-11224073-G-A

NM_000527.4(LDLR):c.1306G>A;(p.V436M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia.

Journal Of Atherosclerosis And Thrombosis
Tada, Hayato H; Nomura, Akihiro A; Nohara, Atsushi A; Inazu, Akihiro A; Mabuchi, Hiroshi H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA
Publication Date: 2018-12-01

Variant appearance in text: LDLR: 1306G>A
PubMed Link: 29998912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.

Jimd Reports
Tada, Hayato H; Kawashiri, Masa-Aki MA; Takata, Mutsuko M; Matsunami, Kunihiro K; Imamura, Atsushi A; Matsuyama, Misayo M; Sawada, Hirotake H; Nunoi, Hiroyuki H; Konno, Tetsuo T; Hayashi, Kenshi K; Nohara, Atsushi A; Inazu, Akihiro A; Kobayashi, Junji J; Mabuchi, Hiroshi H; Yamagishi, Masakazu M
Publication Date: 2015

Variant appearance in text: LDLR: 1306G>A
PubMed Link: 25665839
Variant Present in the following documents:
  • Main text
View BVdb publication page