Publication

Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS, Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature423(6937):293-8 2003
PubMed ID: 12714972

Records Return:  (27) Show
 
12
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
AG06299Female34 YR949motherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG06917Male3 YR949probandHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03262Female6 YR580sisterHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03260Female35 YR580motherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03259Female10 YR580probandHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03258Male36 YR580fatherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03263Male12 YR580brotherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03345Female35 YR543motherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03343Female13 YR543sisterHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03346Male35 YR543fatherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03344Male10 YR543probandHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03504Female41 YR172motherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03507Female15 YR172sisterHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03505Male37 YR172fatherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03508Male17 YR172brotherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG03506Male13 YR172probandHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG10588Female 1233motherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG10587Male9 YR1233probandHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG10585Male 1233brotherHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS
AG10579Male5 YR1231probandHUTCHINSON-GILFORD PROGERIA SYNDROME; HGPS