Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

Nature Genetics

Volumn 27, Issue 3, 2001, Pages 309-312

  Dawkins, Jennifer L ^a   Hulme, Dennis J ^a   Brahmbhatt, Sonal B ^a   Auer Grumbach, Michaela ^b   Nicholson, Garth A ^a  

^a UNIVERSITY OF SYDNEY   (Australia)

^b UNIVERSITY OF GRAZ   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 9Q; CHROMOSOME MAP; CONTROLLED STUDY; HUMAN; HUMAN CELL; MOTONEURON; MUSCLE ATROPHY; MUSCLE WEAKNESS; NEUROPATHY; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; SENSORY NERVE CELL; SKIN ULCER; SPINAL GANGLION;

ACYLTRANSFERASES; AMINO ACID SEQUENCE; APOPTOSIS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 9; DNA PRIMERS; EXONS; GLUCOSYLCERAMIDES; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN SUBUNITS; SEQUENCE HOMOLOGY, AMINO ACID; SERINE C-PALMITOYLTRANSFERASE;

EID: 0035093829     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/85879     Document Type: Article

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