LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia.

Ho, Clement K M

LDLR gene synonymous mutation c.1813C>T results in mRNA splicing variation in a kindred with familial hypercholesterolaemia. [electronic resource] - Annals of clinical biochemistry Nov 2015 - 680-4 p. digital

Publication Type: Journal Article

1758-1001

10.1177/0004563215572702 doi


Adult
Base Sequence
Female
Humans
Hyperlipoproteinemia Type II--genetics
Male
Pedigree
Polymorphism, Single Nucleotide
RNA Splicing--genetics
RNA, Messenger--genetics
Receptors, LDL--genetics
Silent Mutation