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    A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

    A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome 由 Louise S. Bicknell, James Pitt, Salim Aftimos, Ram Ramadas, Marion A. Maw, Stephen P. Robertson

    出版 2008
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