Article
Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.
Human genetics - 1 Jan 1994
Lundin G, Wedell A, Thunell S, Anvret M
Abstract excerpt
Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families. The first is a G to A splice mutation in the last position of intron 9. A screening method using allele-specific amplification has been designed for the rapid detection of this mutation. The second mutation is a C to T substitution in...
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