Ayman W El-Hattab,Mohammed Almannai,Fernando Scaglia
Ayman W El-Hattab
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO...
Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis [0.03%]
用于检测CFTR基因突变和测序以识别囊性纤维化的新生儿筛查质量保证计划
Miyono M Hendrix,Stephanie L Foster,Suzanne K Cordovado
Miyono M Hendrix
All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Cent...
Víctor R De Jesús
Víctor R De Jesús