Publication

Satokata I, Tanaka K, Miura N, Narita M, Mimaki T, Satoh Y, Kondo S, Okada Y, Three nonsense mutations responsible for group A xeroderma pigmentosum. Mutat Res273:193-202 1992
PubMed ID: 1372102

Records Return:  (12) Show
 
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05292Female8 YR842probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM01630Male3 YR77probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM00082Female12 YR76probandXERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
GM02345Female8 YR695probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM04314Female5 YR695sisterXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02990Female8 YR468probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02090Male16 YR389probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02009Female10 YR200probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02994Male4 YR probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02062Male3 YR probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02033Male16 YR probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM00544Male10 YR probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA