A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects

Hum Mutat. 1996;7(1):70-1. doi: 10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.0.CO;2-P.

Authors

H Sundvold¹, K Solberg, S Tonstad, O K Rødningen, L Ose, K Berg, T P Leren

Affiliation

¹ Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.

PMID: 8664907
DOI: 10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.0.CO;2-P

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Exons
Genetic Carrier Screening
Humans
Hyperlipoproteinemia Type II / diagnosis
Hyperlipoproteinemia Type II / genetics*
Molecular Sequence Data
Mutation*
Norway
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Promoter Regions, Genetic
Receptors, LDL / genetics*

Substances

Receptors, LDL