The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula, N

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation. [electronic resource] - American journal of human genetics Oct 2000 - 832-40 p. digital

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

0002-9297

10.1086/303077 doi


Age of Onset
Alleles
Amino Acid Substitution--genetics
Base Sequence
DNA Mutational Analysis
Exons--genetics
Finland--epidemiology
Founder Effect
Gene Frequency--genetics
Genetic Testing
Heterozygote
Humans
Infant
Infant, Newborn
Introns--genetics
Lysosomal Storage Diseases--epidemiology
Membrane Transport Proteins--chemistry
Mutation--genetics
N-Acetylneuraminic Acid--metabolism
Organic Anion Transporters
Phenotype
Polymerase Chain Reaction
Protein Conformation
RNA, Messenger--analysis
Sweden--epidemiology
Symporters