Prenatal Diagnosis of α1-Antitrypsin Deficiency by Direct Analysis of the Mutation Site in the Gene

Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster

1982 • 937 citations

Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation.

1978 • 804 citations

Liver Disease in Alpha₁-Antitrypsin Deficiency Detected by Screening of 200,000 Infants

1976 • 787 citations

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

1983 • 536 citations

Natural History and Life Expectancy in Severe Alpha₁‐Antitrypsin Deficiency, Pi Z

1978 • 493 citations

α1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene

1983 • 277 citations

A Sensitive New Prenatal Test for Sickle-Cell Anemia

1982 • 201 citations

Cloning and sequence of cDNA coding for alpha 1-antitrypsin.

1981 • 176 citations

Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency.

1976 • 172 citations

Improved Detection of the Sickle Mutation by DNA Analysis

1982 • 171 citations

Direct identification of sickle cell anemia by blot hybridization.

1981 • 148 citations

Sequence homology and structural comparison between the chromosomal human α1-antitrypsin and chicken ovalbumin genes

1982 • 128 citations

Mass screening of newborn Swedish infants for alpha antitrypsin deficiency.

1975 • 59 citations