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Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene.
D H DH Llewellyn, S J SJ Smyth, G H GH Elder, A C AC Hutchesson, J M JM Rattenbury and M F MF Smith
Hum Genet 89(1):97-8 (1992)
PMID 1577472
A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes for adjacent base transitions in the same codon in exon 10 of the PBG deaminase gene.
DOI:
Version: za2963e q8za1 q8zba q8zcd q8zd7 q8ze8 q8zf1 q8zg1
DOI:
Version: za2963e q8za1 q8zba q8zcd q8zd7 q8ze8 q8zf1 q8zg1