Publication

Satokata I, Tanaka K, Miura N, Miyamoto I, Satoh Y, Kondo S, Okada Y, Characterization of a splicing mutation in group A xeroderma pigmentosum. Proc Natl Acad Sci U S A87:9908-12 1990
PubMed ID: 1702221

Records Return:  (18) 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
GM03248Male5 YR714probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD
GM00710Male1 YR703probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM00130Male25 YR700probandAPPARENTLY HEALTHY NON-FETAL TISSUE
GM04312Female7 YR695probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02246Female30 YR482probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
GM02990Female8 YR468probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02090Male16 YR389probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02252Female31 YR283probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB
GM08437Female64 YR2047probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF
GM02009Female10 YR200probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM00131Female23 YR probandAPPARENTLY HEALTHY NON-FETAL TISSUE
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