An Interactive Annotated World Bibliography of Printed and Digital Works in the History of Medicine and the Life Sciences from Circa 2000 BCE to 2024 by Fielding H. Garrison (1870-1935), Leslie T. Morton (1907-2004), and Jeremy M. Norman (1945- ) Traditionally Known as “Garrison-Morton”

16061 entries, 14144 authors and 1947 subjects. Updated: December 10, 2024

Permanent Link for Entry #16533

  • 14217

Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Nature, 423, 293-298, 2003.

The authors showed that mutations in lamin A (LMNA) are the cause of Hutchinson-Gilford progeria sundrom (HGPS). At the end of their abstract they stated that "The discovery of the molecular basis of this disease may shed light on the general phenomenon of human aging."

Digital facsimile from PubMedCentral at this link.
Order of authorship in the original publication: Eriksson, Brown, Gordon... Collins.

See Also:
Annachiara De Sandre-Giovannoli, Rafaelle Bernard, Perre Cau et al…..  "Lamin A truncation in Hutchinson-Gilford progeria," Science, 300, No. 5626, 2003, page 2055.  Digital facsimile from science.org at this link. This paper was accepted by the journal Science on the same day that the Collins paper was accepted by the journal Nature.

(Thanks to Juan Weiss for these references and their interpretation.)



Subjects: BIOLOGY › MOLECULAR BIOLOGY › Molecular Biology, GENETICS / HEREDITY › GENETIC DISORDERS › Progeria
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