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Analysis of mutations causing steroid 21-hydroxylase deficiency
Perrin C. White
Pediatrics
Endocrinology
Research output
:
Contribution to journal
›
Article
›
peer-review
24
Scopus citations
Overview
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Medicine & Life Sciences
Steroid 21-Hydroxylase
100%
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
96%
Pseudogenes
57%
Alleles
49%
Codon
44%
Mutation
37%
Gene Conversion
30%
Congenital Adrenal Hyperplasia
29%
Oligonucleotide Probes
28%
Isoleucine
28%
Asparagine
28%
Genes
27%
Valine
26%
Nonsense Codon
25%
Missense Mutation
23%
Leucine
23%
Genetic Recombination
21%
Organism Cloning
20%
Hydrocortisone
20%
Complementary DNA
18%
DNA
12%