Rare alpha 1 antitrypsin allele PI W and a history of infant liver disease.

doi:10.1002/ajmg.1320450603

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Article

Rare alpha 1 antitrypsin allele PI W and a history of infant liver disease.

American journal of medical genetics - 15 Mar 1993

Clark P, Chong A Y

Abstract excerpt

We present a consanguinous couple whose three of four children are homozygous for a rare slow alpha 1 antitrypsin allele PI*W. All three children had abnormal liver function in infancy and two died in infancy of liver disease. The eldest child and both parents were heterozygous for the PI*W allel...

Topics

Alleles
Consanguinity
Female
Heterozygote
Homozygote
Humans
Infant
Isoelectric Focusing
Liver Diseases
Male
Phenotype
alpha 1-Antitrypsin

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