The Spectrum of SLC17A5-Gene Mutations Resulting in Free Sialic Acid–Storage Diseases Indicates Some Genotype-Phenotype Correlation
- 1 October 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 67 (4) , 832-840
- https://doi.org/10.1086/303077
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- The Finnish population structure A genetic and genealogical studyHereditas, 2009
- Molecular genetics of the Finnishdisease heritageHuman Molecular Genetics, 1999
- Salla disease ‐ rare or underdiagnosed?Developmental Medicine and Child Neurology, 1997
- Linkage Disequilibrium Utilized to Establish a Refined Genetic Position of the Salla Disease Locus on 6q14-q15Genomics, 1995
- Phenotypic Variation and Magnetic Resonance Imaging (MRI) in Salla Disease, a Free Sialic Acid Storage DisorderNeuropediatrics, 1994
- Salla disease variant in a Dutch patientEuropean Journal of Pediatrics, 1992
- Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: Application to aspartylglucosaminuria in FinlandGenomics, 1992
- Basic local alignment search toolJournal of Molecular Biology, 1990
- SCREENING OF INHERITED OLIGOSACCHARIDURIAS AMONG MENTALLY RETARDED PATIENTS IN NORTHERN FINLANDJournal of Intellectual Disability Research, 1986
- Defective Sialic Acid Egress from Isolated Fibroblast Lysosomes of Patients with Salla DiseaseScience, 1986