https://hippoinhibitors.com/lo....ok-at-bilateral-vaso
A single peak, registering a maximum multipoint LOD score of 300, was the sole significant finding on chromosome 1 in family RP01. Family RP02, on the other hand, displayed multiple peaks on chromosome 8, each achieving a multipoint LOD score of 180. In contrast to the standard genomic sequence, the gene demonstrated a homozygous substitution: valine replaced by glycine (c.1152TG; p.V243G). The gene revealed the replacement of proline with leucine at position 1035 (p. P1035L), a result