Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis (Q54102875)
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Current Data About Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis
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(P854) http://europepmc.org/abstract/MED/17684380

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(P1476) "Compound heterozygous ABCA12 mutations including a novel nonsense mutation underlie harlequin ichthyosis" (language: en)
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(P2093) Masashi Akiyama
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Kaori Sakai
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Toshihiro Sato
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James R McMillan
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Maki Goto
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Daisuke Sawamura
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Hiroshi Shimizu
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(P2860) (Q24315044)
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(P813) Sunday, January 21, 2018

(Q49036360)
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(Q33784414)
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(P356) 10.1159/000104269
(P698) 17684380