Found: 21
Select item for more details and to access through your institution.
mRNA editing, FAS, and systemic lupus erythematosus.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. v, doi. 10.1002/humu.21620
- By:
- Publication type:
- Article
Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1259, doi. 10.1002/humu.21560
- By:
- Publication type:
- Article
Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1204, doi. 10.1002/humu.21576
- By:
- Publication type:
- Article
FAS mRNA editing in human systemic lupus erythematosus.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1268, doi. 10.1002/humu.21565
- By:
- Publication type:
- Article
Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1197, doi. 10.1002/humu.21569
- By:
- Publication type:
- Article
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1246, doi. 10.1002/humu.21561
- By:
- Publication type:
- Article
A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1326, doi. 10.1002/humu.21579
- By:
- Publication type:
- Article
DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1213, doi. 10.1002/humu.21564
- By:
- Publication type:
- Article
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1278, doi. 10.1002/humu.21568
- By:
- Publication type:
- Article
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1319, doi. 10.1002/humu.21575
- By:
- Publication type:
- Article
No trespassing: Ancient BST2 deletion confers protection against simian immunodeficiency virus infection of humans.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. v, doi. 10.1002/humu.21619
- By:
- Publication type:
- Article
Ancient origin of a deletion in human BST2/ Tetherin that confers protection against viral zoonoses.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1243, doi. 10.1002/humu.21571
- By:
- Publication type:
- Article
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1239, doi. 10.1002/humu.21563
- By:
- Publication type:
- Article
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1309, doi. 10.1002/humu.21573
- By:
- Publication type:
- Article
GLI3 is rarely implicated in OFD syndromes with midline abnormalities.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1332, doi. 10.1002/humu.21570
- By:
- Publication type:
- Article
Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. E2294, doi. 10.1002/humu.21567
- By:
- Publication type:
- Article
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1290, doi. 10.1002/humu.21578
- By:
- Publication type:
- Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562
- By:
- Publication type:
- Article
The polymorphism and haplotypes of PIN1 gene are associated with the risk of lung cancer in southern and eastern chinese populations.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1299, doi. 10.1002/humu.21574
- By:
- Publication type:
- Article
Using systematic nomenclature for CFTR variants: Improvement needed.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. v, doi. 10.1002/humu.21618
- By:
- Publication type:
- Article
A mutation in SCARB2 is a modifier in gaucher disease.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1232, doi. 10.1002/humu.21566
- By:
- Publication type:
- Article