Prediction of nonsynonymous single nucleotide polymorphisms in human disease-associated genes
β Scribed by Shamil Sunyaev; Jens Hanke; Atakan Aydin; Ute Wirkner; Inga Zastrow; Jens Reich; Peer Bork
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 87 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0946-2716
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Investigating possible genetic polymorphisms and gene-environment interactions in the etiology of human conotruncal defects is a prudent research approach. In this study we explore gene-only and gene-environment effects of 32 single nucleotide polymorphisms (SNPs) on conotruncal defect risks. The ge
We report four DNA variants in the gene coding for the cell adhesion molecule E-cadherin. The polymorphisms affect codons 115, 133, 582 and the 3'-non-coding region.
## Abstract ## Objective Giant cell arteritis (GCA) is the most common type of primary vasculitis. Matrix metalloproteinase 9 (MMPβ9) is present in arterial lesions of GCA and may be involved in its pathogenesis. We investigated whether certain genotypes of 4 singleβnucleotide polymorphisms (SNPs)
Human physical pigmentation is determined by the type and amount of melanin and the process of pigmentation production probably involves more than 100 genes. A failure to synthesize melanin results in oculocutaneous albinism (OCA). A recently identified form of OCA results from mutations in the Memb