KEGG   VARIANT: 212v1
Entry
212v1                      Variant                                 
Name
ALAS2 deficiency
Gene
ALAS2  5'-aminolevulinate synthase 2 [KO:K00643]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 301300
Reference
  Authors
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H
  Title
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
  Journal
Am J Hum Genet 83:408-14 (2008)
DOI:10.1016/j.ajhg.2008.08.003

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