Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization.
作者信息
Klasen E C, Hofker M H, van Paassen H M, Verlaan-de Vries M, Bos J L, Frants R R
机构信息
Department of Human Genetics, Sylvius Laboratories, State University, Leiden, The Netherlands.
出版信息
Clin Chim Acta. 1987 Dec;170(2-3):201-7. doi: 10.1016/0009-8981(87)90129-x.
PMID:3501742
Abstract
Oligonucleotide probes, specific for the two most common deficiency variants, Z and S, of alpha-1-antitrypsin have been successfully applied for the diagnosis at the DNA-level. The possible presence of silent alleles necessitates a careful study of the parents both at the protein- and DNA-level in prenatal diagnostic cases.
摘要
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