TY  - GEN
AU  - Pepe,G
AU  - Chimienti,G
TI  - Correct usage of a mutated G+1 splice site and transcript quantitation in a lipoprotein lipase-deficient patient
SN  - 0964-6906
PY  - 1993///1230
KW  - Adult
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - DNA, Complementary
KW  - genetics
KW  - Humans
KW  - Lipoprotein Lipase
KW  - deficiency
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - RNA Splicing
KW  - RNA, Messenger
KW  - RNA, Small Nuclear
KW  - Transcription, Genetic
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/2.9.1455
ER  -