TY  - GEN
AU  - Lelli,N
AU  - Garuti,R
AU  - Zambelli,F
AU  - Cassanelli,S
AU  - Tiozzo,R
AU  - Corsini,A
AU  - Bertolini,S
AU  - Riva,E
AU  - Ortisi,M T
AU  - Bellù,R
TI  - Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FHPotenza)
SN  - 0022-2275
PY  - 1993///1109
KW  - Alternative Splicing
KW  - Base Sequence
KW  - Blotting, Northern
KW  - Blotting, Southern
KW  - DNA Primers
KW  - DNA, Complementary
KW  - Female
KW  - Gene Deletion
KW  - Heterozygote
KW  - Humans
KW  - Hyperlipoproteinemia Type II
KW  - genetics
KW  - Infant
KW  - Italy
KW  - Molecular Sequence Data
KW  - Polymerase Chain Reaction
KW  - RNA, Messenger
KW  - Receptors, LDL
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
ER  -