TY  - GEN
AU  - Aula,N
AU  - Salomäki,P
AU  - Timonen,R
AU  - Verheijen,F
AU  - Mancini,G
AU  - Månsson,J E
AU  - Aula,P
AU  - Peltonen,L
TI  - The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation
SN  - 0002-9297
PY  - 2000///1031
KW  - Age of Onset
KW  - Alleles
KW  - Amino Acid Substitution
KW  - genetics
KW  - Base Sequence
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Finland
KW  - epidemiology
KW  - Founder Effect
KW  - Gene Frequency
KW  - Genetic Testing
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Introns
KW  - Lysosomal Storage Diseases
KW  - Membrane Transport Proteins
KW  - chemistry
KW  - Mutation
KW  - N-Acetylneuraminic Acid
KW  - metabolism
KW  - Organic Anion Transporters
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Protein Conformation
KW  - RNA, Messenger
KW  - analysis
KW  - Sweden
KW  - Symporters
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/303077
ER  -