Genome-wide SNP arrays as a diagnostic tool: Clinical description, genetic mapping, and molecular characterization of Salla disease in an old order mennonite population

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 262-267

  Strauss, Kevin A ^a   Puffenberger, Erik G ^a   Craig, David W ^b   Panganiban, Corrie B ^b   Lee, Anne M ^b   Hu Lince, Diane ^b   Stephan, Dietrich A ^b   Morton, D Holmes ^a  

^a CLINIC FOR SPECIAL CHILDREN   (United States)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

Author keywords

Developmental delay; Mennonite; Salla disease; SLC17A5; SNP arrays

Indexed keywords

ARTICLE; ATAXIA; CASE REPORT; CHROMOSOME 6; DIAGNOSTIC TEST; FEMALE; FINLAND; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; MARKER GENE; MOTOR DYSFUNCTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIALIC ACID STORAGE DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CORPUS CALLOSUM; CROSS-CULTURAL COMPARISON; DEVELOPMENTAL DISABILITIES; FEMALE; GENOMICS; HUMANS; INFANT; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; ORGANIC ANION TRANSPORTERS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTESTANTISM; SIALIC ACID STORAGE DISEASE; SYMPORTERS;

ATAXIA;

EID: 25644438533     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30961     Document Type: Article

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