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Mutation, Missense
metabolism
missense mutation
12
Humans
10
genetics
10
human
10
Female
8
article
8
female
8
DNA sequence
6
amino acid substitution
6
controlled study
6
glutamic acid
6
glycine
6
mutational analysis
6
valine
6
3 beta-hydroxysteroid dehydrogenase type II
4
3beta hydroxy delta5 steroid dehydrogenase
4
Adolescent
4
Adrenal Hyperplasia, Congenital
4
Adult
4
Animals
4
Argentina
4
DNA flanking region
4
Exons
4
Flavoproteins
4
Frameshift Mutation
4
Heme
4
Heterozygote Detection
4
Infant
4
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4Publicado 2015
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5
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6Artículo publishedVersion
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7Artículo publishedVersion
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