TY  - GEN
AU  - Lelli,N
AU  - Garuti,R
AU  - Pedrazzi,P
AU  - Ghisellini,M
AU  - Simone,M L
AU  - Tiozzo,R
AU  - Cattin,L
AU  - Valenti,M
AU  - Rolleri,M
AU  - Bertolini,S
TI  - A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste)
SN  - 0340-6717
PY  - 1994///0602
KW  - Base Sequence
KW  - Blotting, Southern
KW  - Cysteine
KW  - DNA
KW  - analysis
KW  - DNA Mutational Analysis
KW  - Exons
KW  - genetics
KW  - Female
KW  - Humans
KW  - Hyperlipoproteinemia Type II
KW  - Italy
KW  - Male
KW  - Molecular Sequence Data
KW  - Phenylalanine
KW  - Point Mutation
KW  - Polymerase Chain Reaction
KW  - Receptors, LDL
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/BF00202819
ER  -