Publication

States JC, McDuffie ER, Myrand SP, McDowell M, Cleaver JE, Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein. Hum Mutat12:103-13 1998
PubMed ID: 9671271

Records Return:  (29) Show
 
12
Catalog IDGenderAge at SamplingFamilyRelationshipDescription
GM05292Female8 YR842probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM07690Female33 YR77motherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM01632Female25 YR77motherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM07689Male37 YR77fatherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM01630Male3 YR77probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM01631Male29 YR77fatherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM00082Female12 YR76probandXERODERMA PIGMENTOSUM, VARIANT TYPE; XPV
GM00241Female 76motherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM00710Male1 YR703probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM04314Female5 YR695sisterXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM05510Female44 YR484motherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM05509Female17 YR484probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM05568Male47 YR484fatherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM05569Male47 YR484fatherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM05566Male20 YR484brotherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM05567Male20 YR484brotherXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02990Female8 YR468probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02991Male6 YR468first cousinXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02091Male31 YR389third cousinXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA
GM02090Male16 YR389probandXERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA