A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste).
Lelli, N
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). [electronic resource] - Human genetics May 1994 - 538-40 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/BF00202819 doi
Base Sequence
Blotting, Southern
Cysteine
DNA--analysis
DNA Mutational Analysis
Exons--genetics
Female
Humans
Hyperlipoproteinemia Type II--genetics
Italy
Male
Molecular Sequence Data
Phenylalanine
Point Mutation
Polymerase Chain Reaction
Receptors, LDL--genetics
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). [electronic resource] - Human genetics May 1994 - 538-40 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0340-6717
10.1007/BF00202819 doi
Base Sequence
Blotting, Southern
Cysteine
DNA--analysis
DNA Mutational Analysis
Exons--genetics
Female
Humans
Hyperlipoproteinemia Type II--genetics
Italy
Male
Molecular Sequence Data
Phenylalanine
Point Mutation
Polymerase Chain Reaction
Receptors, LDL--genetics