Found: 12
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A Missense Mutation in the Alpha-Actinin 1 Gene (<i>ACTN1</i>) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074728
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- Article
Mutational status of synchronous and metachronous tumor samples in patients with metastatic non-small-cell lung cancer.
- Published in:
- 2016
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- Publication type:
- journal article
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 936, doi. 10.1038/sj.ejhg.5201873
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- Publication type:
- Article
Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic...
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 2, p. 100
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- Publication type:
- Article
Cell-Autonomous Roles of ARX in Cell Proliferation and Neuronal Migration during Corticogenesis.
- Published in:
- Journal of Neuroscience, 2008, v. 28, n. 22, p. 5794, doi. 10.1523/JNEUROSCI.1067-08.2008
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- Publication type:
- Article
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
- Published in:
- BMC Genetics, 2001, v. 2, p. 19, doi. 10.1186/1471-2156-2-19
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- Article
Evolution of Trypsinogen Activation Peptides.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 11, p. 1767, doi. 10.1093/molbev/msg183
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- Publication type:
- Article
Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay–Lac-Saint-Jean (Quebec, Canada).
- Published in:
- British Journal of Haematology, 2000, v. 108, n. 4, p. 854, doi. 10.1046/j.1365-2141.2000.01954.x
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- Publication type:
- Article
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 343, doi. 10.1002/humu.20009
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- Article
Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 +1 G→A.
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- Human Mutation, 1994, v. 4, n. 3, p. 224, doi. 10.1002/humu.1380040309
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- Publication type:
- Article
The Hereditary Pancreatitis Gene Maps to Long Arm of Chromosome 7.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 549, doi. 10.1093/hmg/5.4.549
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- Publication type:
- Article
Genotype analysis of adult cystic fibrosis patients.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1557
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- Publication type:
- Article