De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.

doi:10.1007/BF00210767

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Article

De novo mutation within the intron-exon junction in the PiZ allele of the alpha-1-antitrypsin gene.

Human genetics - 1 Jan 2000

Schwarzman A L, Kowalska A, Rujner J, Vlasov M S, Gaitskhoki V S

Abstract excerpt

A proband homozygous for the PiZ allele of the alpha-1-antitrypsin gene was found to be a heterozygous carrier of the additional nucleotide substitution (C-T) within the intron IV-exon V junction (position 9955 in intron IV, 3 bp upstream of its 3'-splice site). This mutation was not found in DNA...

Topics

Alleles
Base Sequence
Child
Exons
Female
Humans
Introns
Liver Cirrhosis
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Polymerase Chain Reaction
alpha 1-Antitrypsin
alpha 1-Antitrypsin Deficiency

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