Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

Zeng, Xuemei

Detection and assignment of CYP21 mutations using peptide mass signature genotyping. [electronic resource] - Molecular genetics and metabolism May 2004 - 38-47 p. digital

Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S.

1096-7192

10.1016/j.ymgme.2004.02.006 doi


Adrenal Hyperplasia, Congenital--diagnosis
Alleles
DNA Mutational Analysis--methods
Exons--genetics
Genotype
Humans
Infant, Newborn
Mutation--genetics
Peptides--chemistry
Polymorphism, Genetic--genetics
Reading Frames--genetics
Sequence Analysis, DNA--methods
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Steroid 21-Hydroxylase--genetics