A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy

Proceedings of the National Academy of Sciences of the United States of America

Volumn 104, Issue 16, 2007, Pages 6746-6751

  Krebs, Stefan ^a   Medugorac, Ivica ^a   Röther, Susanne ^a   Strässer, Katja ^a   Förster, Martin ^a  

^a UNIVERSITY OF MUNICH   (Germany)

Author keywords

Cattle; Fine mapping; Genetics; Motor neuron; Neurodegenerative disease

Indexed keywords

3 KETODIHYDROSPHINGOSINE REDUCTASE; ADENINE; ALANINE; GLYCOSPHINGOLIPID; GUANINE; OXIDOREDUCTASE; THREONINE; UNCLASSIFIED DRUG; 3-KETODIHYDROSPHINGOSINE REDUCTASE; ALCOHOL DEHYDROGENASE; MICROSATELLITE DNA;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BOVINE SPINAL MUSCULAR ATROPHY; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; FOUNDER EFFECT; FVT1 GENE; GENE; GENE MAPPING; GENETIC COMPLEMENTATION; GENOME; LIPID METABOLISM; MISSENSE MUTATION; MOTONEURON; NERVE CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SMN GENE; SPINAL MUSCULAR ATROPHY; ANIMAL; CATTLE; ENZYMOLOGY; GENETICS; MALE;

ANIMALIA; BOS; BOVINAE;

ALCOHOL OXIDOREDUCTASES; ANIMALS; CATTLE; MALE; MICROSATELLITE REPEATS; MUSCULAR ATROPHY, SPINAL; MUTATION, MISSENSE;

EID: 34249861059     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0607721104     Document Type: Article

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