Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

Masato Orita, Hiroyuki Iwahana, Hiroshi Kanazawa et al. · Proceedings of the National Academy of Sciences · 1989 · 3.6K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

A routine method for the establishment of permanent growing lymphoblastoid cell lines

Heidemarie Neitzel · Human Genetics · 1986 · 647 citations

Life Sciences, Cell Biology, Molecular Biology +13

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · Clinica Chimica Acta · 1983 · 348 citations

Life Sciences, Biochemistry, Molecular Biology +13

Phenotypic variation in biotinidase deficiency

Barry Wolf, Robert E. Grier, Richard J. Allen et al. · The Journal of Pediatrics · 1983 · 196 citations

Life Sciences, Genetics, Nutritional Sciences +13