✦ LIBER ✦
A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome
✍ Scribed by Bicknell, Louise S; Pitt, James; Aftimos, Salim; Ramadas, Ram; Maw, Marion A; Robertson, Stephen P
- Book ID
- 109848947
- Publisher
- Nature Publishing Group
- Year
- 2008
- Tongue
- English
- Weight
- 450 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1018-4813
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