Concepedia

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz, Cheryl L. Maslen, Lynn Y. Sakai, Glen M. Corson, Erik G. Puffenberger, Ada Hamosh, Elizabeth Nanthakumar, S M Curristin,

Nature · 1991 · 2.1K citations · 18 references

DOI

Concepts

References

18

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

, , +16

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

J L Weber, Paula E. May · PubMed · 1989 · 3.4K citations

, , +14

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

Lynn Y. Sakai, Douglas R. Keene, Eva Engvall · The Journal of Cell Biology · 1986 · 1.1K citations · Full text

, , +10

A genetic linkage map of the human genome

Cell · 1987 · 911 citations

, , +14

Immunohistologic Abnormalities of the Microfibrillar-Fiber System in the Marfan Syndrome

David W. Hollister, Maurice Godfrey, Lynn Y. Sakai et al. · New England Journal of Medicine · 1990 · 396 citations · Full text

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