๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical cases

โœ Scribed by Kiyoshi Hayasaka; Keiya Tada; Noboru Fuekl; Yasuhide Nakamura; William L. Nyhan; Kathleen Schmidt; Seymour Packman; Margaretta R. Seashore; Eric Haan; David M. Danks; R.B.H. Schutgens

Book ID
119462698
Publisher
Elsevier Science
Year
1987
Tongue
English
Weight
343 KB
Volume
110
Category
Article
ISSN
1097-6833

No coin nor oath required. For personal study only.

๐Ÿ“œ SIMILAR VOLUMES

Identification of the mutations in the T
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia
โœ Kenji Nanao; Kazuko Okamura-Ikeda; Yutaro Motokawa; David M. Danks; E. Regula Ba ๐Ÿ“‚ Article ๐Ÿ“… 1994 ๐Ÿ› Springer ๐ŸŒ English โš– 762 KB

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 Gto-A transition leading to a Gly