These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Rare alpha 1 antitrypsin allele PI W and a history of infant liver disease.
    Author: Clark P, Chong AY.
    Journal: Am J Med Genet; 1993 Mar 15; 45(6):674-6. PubMed ID: 8456843.
    Abstract:
    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 allele and were unaffected. Therefore, although serum levels are not markedly reduced, homozygotes appear to be at increased risk of developing liver disease.
    [Abstract] [Full Text] [Related] [New Search]