KEGG   VARIANT: 19v1
Entry
19v1                      Variant                                  
Name
ABCA1 mutation
Gene
ABCA1  ATP binding cassette subfamily A member 1 [KO:K05641]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600046
Network
nt06535  Efferocytosis
Disease
H00159  Tangier disease
H00930  Hypoalphalipoproteinemia
Reference
PMID:10431236
  Authors
Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Genest J Jr, Hayden MR
  Title
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.
  Journal
Nat Genet 22:336-45 (1999)
DOI:10.1038/11905
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