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An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia

Svetlana Lajić, Anna Wedell

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Key concepts: Nonsense mutation, Biology, Genetics, Compound heterozygosity, Allele, Intron, Splice site mutation, Congenital adrenal hyperplasia

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An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia — Research Paper | ScholarLens