Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene (HGO)

Statistical Methods for Rates and Proportions.

B. S. Everitt, J. L. Fleiss · Biometrics · 1981 · 9.1K citations

Natural Sciences, Biostatistics, Demographic Methods +10

THE INCIDENCE OF ALKAPTONURIA : A STUDY IN CHEMICAL INDIVIDUALITY.

ArchibaldE. Garrod · The Lancet · 1902 · 784 citations

Life Sciences, Chemistry, Human Genetics +3

THE NATURE OF THE DEFECT IN TYROSINE METABOLISM IN ALCAPTONURIA

Bert N. La Du, Vincent G. Zannoni, Leonard Laster et al. · Journal of Biological Chemistry · 1958 · 356 citations · Full text

Life Sciences, Biochemistry, Cellular Metabolism +8

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Hagop Youssoufian, Haig H. Kazazian, Deborah G. Phillips et al. · Nature · 1986 · 266 citations

Life Sciences, Genetics, Molecular Genetics +11

Use of an automated external de fibrillation pacemaker by ambulance staff

N S V Jaggarao, Mary E. Heber, R.M. Grainger et al. · The Lancet · 1982 · 200 citations

Medicine, Cardiology, Emergency Medicine +15