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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 Gly-to-Asp substitution at amino acid 269 (G269D). Sibling patients of a second family with atypical NKH had two...

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PMID: 8005589
DOI: 10.1007/BF00201565

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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