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A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
2008
A missense mutation in ALDH18A1 , encoding Δ 1 -pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
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