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Exploring the boundaries: gene and protein identification in biomedical text

โœ Scribed by Jenny Finkel; Shipra Dingare; Christopher D Manning; Malvina Nissim; Beatrice Alex; Claire Grover

Book ID
115000143
Publisher
BioMed Central
Year
2005
Tongue
English
Weight
260 KB
Volume
6
Category
Article
ISSN
1471-2105

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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