LMLN c.436T>C ;(p.C146R)

Variant ID: 3-197703473-T-C

NM_001136049.2(LMLN):c.436T>C;(p.C146R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics
Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O
Publication Date: 2005-02-08

Variant appearance in text: Msp: C146R
PubMed Link: 15701167
Variant Present in the following documents:
  • Main text
  • 1471-2350-6-6.pdf
View BVdb publication page