TY  - GEN
AU  - Desviat,Lourdes R
AU  - Clavero,Sonia
AU  - Perez-Cerdá,Celia
AU  - Navarrete,Rosa
AU  - Ugarte,Magdalena
AU  - Perez,Belen
TI  - New splicing mutations in propionic acidemia
SN  - 1434-5161
PY  - 2007///0117
KW  - Alternative Splicing
KW  - Amino Acid Metabolism, Inborn Errors
KW  - epidemiology
KW  - Base Sequence
KW  - Carbon-Carbon Ligases
KW  - genetics
KW  - Exons
KW  - Fibroblasts
KW  - metabolism
KW  - Founder Effect
KW  - Genotype
KW  - Heterozygote
KW  - Humans
KW  - Introns
KW  - Molecular Sequence Data
KW  - Mutation
KW  - RNA, Messenger
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10038-006-0068-3
ER  -