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

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.)