A 5'HPRT minigene segment along with a neomycin resistance gene was inserted after exon 6 and was followed by a duplication of exons 3-6 with about 10kb of vector sequence. No protein product could be identified in homozygotes by western blot analysis. (J:85760)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count