A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

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

Genetic Analysis, Mobility Shift Analysis, Genetic Testing +15

The Molecular Basis of Blood Diseases.

Annals of Internal Medicine · 1987 · 635 citations · Full text

Functional Genomics, Disease Mechanism, Human Diseases +15

Improved double-stranded DNA sequencing using the linear polymerase chain reaction

Vincent Murray · Nucleic Acids Research · 1989 · 450 citations · Full text

Dna, Engineering, Genetics +23

The molecular basis of blood diseases

Haig H. Kazazian · Cell · 1988 · 357 citations

Autoimmune Disease, Disease Mechanism, Hematology +7

Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).

N N Ahmad, Leena Ala‐Kokko, Robert G. Knowlton et al. · Proceedings of the National Academy of Sciences · 1991 · 318 citations · Full text

Immunodeficiencies, Genetics, Type Ii Collagen +18