Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia

PURPOSE: Improved second-tier tools are needed to reduce false-positive outcomes in newborn screening (NBS) for inborn metabolic disorders on the Recommended Universal Screening Panel (RUSP). METHODS: We designed an assay for multiplex sequencing of 72 metabolic genes (RUSPseq) from newborn dried bl...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Peng, Gang, Shen, Peidong, Gandotra, Neeru, Le, Anthony, Fung, Eula, Jelliffe-Pawlowski, Laura, Davis, Ronald W., Enns, Gregory M., Zhao, Hongyu, Cowan, Tina M., Scharfe, Curt
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group US 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6416784/
https://ncbi.nlm.nih.gov/pubmed/30209273
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0272-5
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados