Found: 8
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Genetic mutations in exons 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 18, doi. 10.1038/jhg.2009.113
- By:
- Publication type:
- Article
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
- Published in:
- Human Mutation, 1998, v. 11, p. S5, doi. 10.1002/humu.1380110103
- By:
- Publication type:
- Article
Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
- Published in:
- Human Mutation, 1998, v. 11, p. S131, doi. 10.1002/humu.1380110144
- By:
- Publication type:
- Article
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
- Published in:
- Human Mutation, 1994, v. 3, n. 4, p. 402, doi. 10.1002/humu.1380030415
- By:
- Publication type:
- Article
The spectrum of mutations in UBE3A causing Angelman syndrome.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 1, p. 129, doi. 10.1093/hmg/8.1.129
- By:
- Publication type:
- Article
Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells.
- Published in:
- Kidney International, 1994, v. 46, n. 5, p. 1307, doi. 10.1038/ki.1994.399
- By:
- Publication type:
- Article
Identification of a single base insertion in the COL4A5 gene in Alport syndrome.
- Published in:
- Kidney International, 1993, v. 44, n. 5, p. 1091, doi. 10.1038/ki.1993.353
- By:
- Publication type:
- Article