Rare alpha 1 antitrypsin allele PI W and a history of infant liver disease.
Am J Med Genet
; 45(6): 674-6, 1993 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-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.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Alfa 1-Antitripsina
/
Hepatopatias
Limite:
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Austrália