Article
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Human genetics - 1 Jun 1994
Nanao K, Okamura-Ikeda K, Motokawa Y, Danks D M, Baumgartner E R, Takada G, Hayasaka K
Abstract excerpt
We have investigated the molecular lesions of T-protein deficiency causing typical or atypical nonketotic hyperglycinemia (NKH) in two unrelated pedigrees. A patient with typical NKH was identified as being homozygous for a missense mutation in the T-protein gene, a G-to-A transition leading to a...
Topics
- Adult
- Amino Acid Metabolism, Inborn Errors
- Amino Acid Sequence
- Aminomethyltransferase
- Animals
- Base Sequence
- Cattle
- Child
- Female
- Glycine
- Humans
- Hydroxymethyl and Formyl Transferases
- Molecular Sequence Data
- Mutation
- Sequence Homology, Amino Acid
- Transferases