Publication

Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M, Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling Nature genetics40:232-6 2007
PubMed ID: 18157127

Records Return:  (2) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM03189Male7 YR516probandATAXIA-TELANGIECTASIA; AT
GM02188Male63 YR110brother-in-lawHUNTINGTON DISEASE; HD