Aberrant splicing of the CHM gene is a significant cause of choroideremia

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

Randall K. Saiki, Stephen J. Scharf, Fred Faloona et al. · Science · 1985 · 9K citations

Medicine, Genetics, Molecular Genetics +17

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

Life Sciences, Genetics, Molecular Genetics +16

Cloning of a gene that is rearranged in patients with choroideraemia

Frans P.M. Cremers, Dorien J.R. van de Pol, Liesbeth P. M. van Kerkhoff et al. · Nature · 1990 · 334 citations

Life Sciences, Genetics, Molecular Genetics +9

ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation

Ansbert Schneider-Gädicke, Peggy Beer‐Romero, Laura G. Brown et al. · Cell · 1989 · 299 citations

Medicine, Genetics, Molecular Genetics +13

Population Structure and Genetic Disorders

Maurice Super · Journal of Medical Genetics · 1982 · 231 citations · Full text

Life Sciences, Biology, Genetics +14