A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Nature Genetics

Volumn 23, Issue 4, 1999, Pages 462-465

  Verheijen, Frans W ^a   Verbeek, Elly ^a   Aula, Nina ^b   Beerens, Cecile E M T ^a   Havelaar, Adrie C ^a   Joosse, Marijke ^a   Peltonen, Leena ^b   Aula, Pertti ^c   Galjaard, Hans ^a   Van Der Spek, Peter J ^d   Mancini, Grazia M S ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d AKZO NOBEL CENTRAL RESEARCH   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ANION; CARRIER PROTEIN; SIALIC ACID;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBELLAR ATAXIA; CEREBELLUM ATROPHY; CHROMOSOME 6Q; DEGENERATIVE DISEASE; DEMYELINATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HUMAN; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; ANION TRANSPORT PROTEINS; BASE SEQUENCE; CARRIER PROTEINS; DNA PRIMERS; FEMALE; GENE EXPRESSION; GENES, RECESSIVE; HUMANS; INFANT; ION TRANSPORT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NEURODEGENERATIVE DISEASES; PEDIGREE; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SIALIC ACIDS; TISSUE DISTRIBUTION;

ATAXIA;

EID: 0032706624     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/70585     Document Type: Article

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