Molecular heterogeneity underlying the G6PD Mediterranean phenotype

The Metabolic Basis of Inherited Disease

Annals of Internal Medicine · 1990 · 4K citations

Metabolic Syndrome, Disease Mechanism, Metabolic Disorder +6

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

Masato Orita, Youichi Suzuki, Takao Sekiya et al. · Genomics · 1989 · 3.5K citations

Sensitive Detection, Polymerase Chain Reaction, Genetic Analysis +12

The Metabolic Basis of Inherited Diseases

R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations

Metabolic Disorder, Genetics, Medical Library +21

Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia.

Tom Vulliamy, Michele D’Urso, G. Battistuzzi et al. · Proceedings of the National Academy of Sciences · 1988 · 252 citations · Full text

Genetics, Human Polymorphism, Molecular Biology +16

Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East.

Buran Kurdi-Haidar, P.J. Mason, A. Berrebi et al. · PubMed · 1990 · 159 citations