New splicing mutations in propionic acidemia.

Desviat, Lourdes R

New splicing mutations in propionic acidemia. [electronic resource] - Journal of human genetics 2006 - 992-997 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1434-5161

10.1007/s10038-006-0068-3 doi


Alternative Splicing
Amino Acid Metabolism, Inborn Errors--epidemiology
Base Sequence
Carbon-Carbon Ligases--genetics
Exons
Fibroblasts--metabolism
Founder Effect
Genotype
Heterozygote
Humans
Introns
Molecular Sequence Data
Mutation
RNA, Messenger--metabolism
Sequence Analysis, DNA