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

Authors

Keywords

Journal

Volume 16, Issue 10, Pages 1176-1186

Publisher

Springer Nature

Online

2008-05-14

DOI

10.1038/ejhg.2008.91

Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.

Upload Now

Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.

Get Started