Sökning: "PITPNM3"

Hittade 1 avhandling innehållade ordet PITPNM3.

1. 1. Genetic mapping of retinal degenerations in Northern Sweden

   Författare :Linda Köhn; Irina Golovleva; Alison Hardcastle; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bothnia dystrophy; cone dustrophy; linkage analysis; mutation; PITPNM3; PRPF31; retinitis pigmentosa; RLBP1; Medical genetics; Medicinsk genetik; genetik; Genetics;

   Sammanfattning : Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e. LÄS MER