Concepedia

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

Matthew L. Warman, Margaret H. Abbott, Suneel Apte, Tim Hefferon, Iain McIntosh, Daniel H. Cohn, Jacqueline T. Hecht, Bjørn R. Olsen, Clair A. Francomano

Nature Genetics · 1993 · 267 citations · 32 references

DOI

Concepts

References

32

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

, , +14

The Molecular Basis of Blood Diseases.

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

, , +13

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

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

, , +7

The molecular basis of blood diseases

Haig H. Kazazian · Cell · 1988 · 357 citations

, , +16

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 · 319 citations

, , +13