C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload (Q24642289)

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C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload
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    C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload (English)
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    Sharon D Whatley
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    Sarah Ducamp
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    Bernard Grandchamp
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    Carole Beaumont
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    Michael N Badminton
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    George H Elder
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    S Alexander Holme
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    Alexander V Anstey
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    Michelle Parker
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    Anne V Corrigall
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    Peter N Meissner
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    Richard J Hift
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    Joanne T Marsden
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    Yun Ma
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    Giorgina Mieli-Vergani
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    Jean-Charles Deybach
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    Hervé Puy
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    September 2008
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    83
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    408-14
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    3
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