APOB c.805C>G ;(p.P269A)

Variant ID: 2-21258469-G-C

NM_000384.2(APOB):c.805C>G;(p.P269A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human Mutation
Marduel, Marie M; Ouguerram, Khadija K; Serre, Valérie V; Bonnefont-Rousselot, Dominique D; Marques-Pinheiro, Alice A; Erik Berge, Knut K; Devillers, Martine M; Luc, Gérald G; Lecerf, Jean-Michel JM; Tosolini, Laurent L; Erlich, Danièle D; Peloso, Gina M GM; Stitziel, Nathan N; Nitchké, Patrick P; Jaïs, Jean-Philippe JP; , ; Abifadel, Marianne M; Kathiresan, Sekar S; Leren, Trond Paul TP; Rabès, Jean-Pierre JP; Boileau, Catherine C; Varret, Mathilde M
Publication Date: 2013-01

Variant appearance in text: APOB: 805C>G
PubMed Link: 22949395
Variant Present in the following documents:
  • Main text
View BVdb publication page