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

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Bibliographic Details
Published inEuropean journal of human genetics : EJHG Vol. 16; no. 10; pp. 1176 - 1186
Main Authors BICKNELL, Louise S, PITT, James, AFTIMOS, Salim, RAMADAS, Ram, MAW, Marion A, ROBERTSON, Stephen P
Format Journal Article
LanguageEnglish
Published Avenel, NJ Nature Publishing 14.05.2008
Subjects
Biological and medical sciences
Fundamental and applied biological sciences. Psychology
General aspects. Genetic counseling
Genetics of eukaryotes. Biological and molecular evolution
Medical genetics
Medical sciences
Molecular and cellular biology
Enzyme
Proline
neurocutaneous
Synthase
Syndrome
Genetic disease
P5CS
Missense mutation
Aminoacid
Autosomal character
Recessive character
Genetics
ALDH18A1
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ISSN:1018-4813
1476-5438
DOI:10.1038/ejhg.2008.91