C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload by Whatley Sharon D, Ducamp Sarah, Gouya Laurent, Grandchamp Bernard, Beaumont Carole, Badminton Michael N, Elder George H, Holme S Alexander, Anstey Alexander V, Parker Michelle, Corrigall Anne V, Meissner Peter N, Hift Richard J, Marsden Joanne T, Ma Yun, Mieli-Vergani Giorgina, Deybach Jean-Charles, Puy Hervé in American journal of human genetics (2008).

[PMID: 18760763] PubMed


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