Publications:

Characterisation of LDL receptor gene mutations in a North Indian cohort of children with homozygous familial hypercholesterolaemia.

Pediatric Endocrinology, Diabetes, And Metabolism

Singh, Shagun S; Singh, Minu M; Dayal, Devi D; Bhatia, Prateek P; Negi, Sandeep S; V Attri, Savita S

Publication Date: 2021

Variant appearance in text: LDLR: Asp360His

PubMed Link: 33599434

Variant Present in the following documents:

• PEDM-27-43132.pdf

View BVdb publication page

Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1078G>C; Asp360His

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

View BVdb publication page

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics

Ahmad, Zahid Z; Adams-Huet, Beverley B; Chen, Chiyuan C; Garg, Abhimanyu A

Publication Date: 2012-12

Variant appearance in text: LDLR: 1078G>C

PubMed Link: 23064986

Variant Present in the following documents:

• Main text

View BVdb publication page