| Gene Symbol: GLDC. Disease: NKH glycine encephalopathy. Toone J.R., Applegarth D.A., Laliberte G.
Hum. Genet. 113:465-465(2003) · Mapped (2) |
| A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Tang N.L.S., Hui J., Yong C.K.K., Wong L.T.K., Applegarth D.A., Vallance H.D., Law L.K., Fung S.L.M., Mak T.W.L., Sung Y.M. et al.
Clin. Biochem. 36:145-149(2003) · UniProtKB (1) |
| The AGT gene in Africa: a distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in Black Africans. Coulter-Mackie M.B., Tung A., Henderson H.E., Toone J.R., Applegarth D.A.
Mol. Genet. Metab. 78:44-50(2003) · UniProtKB (1) |
| Intron retention and frameshift mutations result in severe pyruvate carboxylase deficiency in two male siblings. Carbone M.A., Applegarth D.A., Robinson B.H.
Hum. Mutat. 20:48-56(2002) · Mapped (3) |
| Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Applegarth D.A., Toone J.R.
Mol. Genet. Metab. 74:139-146(2001) · UniProtKB (1) |
| Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.
Mol. Genet. Metab. 72:322-325(2001) · UniProtKB (2) |
| Glycine cleavage enzyme complex: rabbit H-protein cDNA sequence analysis and comparison to human, cow, and chicken. Choy F., Sharp L., Applegarth D.A.
Biochem. Cell Biol. 78:725-730(2000) · UniProtKB (1) |
| The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Chinnery P.F., Brown D.T., Andrews R.M., Singh-Kler R., Riordan-Eva P., Lindley J., Applegarth D.A., Turnbull D.M., Howell N.
Brain 124:209-218(2001) · UniProtKB (1) |
| Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. Toone J.R., Applegarth D.A., Coulter-Mackie M.B., James E.R.
Mol. Genet. Metab. 70:116-121(2000) · UniProtKB (2) |
| Identification of 6 new mutations in the iduronate sulfatase gene. Vallance H.D., Bernard L., Rashed M., Chiu D., Le G., Toone J., Applegarth D.A., Coulter-Mackie M.
Hum. Mutat. 13:338-338(1999) · UniProtKB (1) |
| DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent. Choy F.Y.M., Wei C., Applegarth D.A., McGillivray B.C.
Am. J. Med. Genet. 51:156-160(1994) · UniProtKB (1) |
