Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. [electronic resource]
Producer: 20140729Description: 898-904 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- genetics
- Alleles
- Amino Acid Sequence
- Animals
- Brain Diseases -- genetics
- Carbohydrate Metabolism, Inborn Errors -- genetics
- Chromosomes, Human, Pair 1 -- genetics
- Consanguinity
- Female
- Fetal Growth Retardation -- genetics
- Genetic Loci
- Homozygote
- Humans
- Ichthyosis -- genetics
- Infant
- Limb Deformities, Congenital -- genetics
- Magnetic Resonance Imaging
- Mice
- Microcephaly -- genetics
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Phosphoglycerate Dehydrogenase -- deficiency
- Protein Conformation
- Psychomotor Disorders -- genetics
- Rare Diseases -- genetics
- Seizures -- genetics
- Serine -- deficiency
- Ultrasonography, Prenatal
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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