A rapid fluorometric assay for newborn screening of α1-antitrypsin followed by phenotyping of deficient specimens by isoelectric focusing
W. Christine Spence(Genetics and IVF Institute), Patricia D. Murphy(Newark Beth Israel Medical Center), Kenneth A. Pass
Cited by 4
Related Papers
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.
|PubMed|1989|963
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
|Genetics in Medicine|2015|292
US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)
|The Journal of Pediatrics|2000|159