Detection and assignment of mutations and minihaplotypes in human DNA using peptide mass signature genotyping (PMSG): application to the human RDS/peripherin gene.
第一作者:
Cheryl A,Telmer
第一单位:
SpectraGenetics LLC, Pittsburgh, Pennsylvania 15213, USA. cheryl.telmer@spectragenetics.com
作者:
主题词
DNA突变分析(DNA Mutational Analysis);眼蛋白质类(Eye Proteins);女(雌)性(Female);基因型(Genotype);单倍型(Haplotypes);人类(Humans);中间丝蛋白质类(Intermediate Filament Proteins);男(雄)性(Male);膜糖蛋白类(Membrane Glycoproteins);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);系谱(Pedigree);肽类(Peptides);视网膜变性(Retinal Degeneration);光谱法, 质量, 基质辅助激光解吸电离(Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization)
DOI
10.1101/gr.995103
PMID
12902384
发布时间
2020-12-15
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Genome research
1944-51页
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