Ontology highlight
ABSTRACT:
SUBMITTER: Demirci FY
PROVIDER: S-EPMC379101 | biostudies-literature | 2002 Apr
REPOSITORIES: biostudies-literature
Demirci F Yesim K FY Rigatti Brian W BW Wen Gaiping G Radak Amy L AL Mah Tammy S TS Baic Corrine L CL Traboulsi Elias I EI Alitalo Tiina T Ramser Juliane J Gorin Michael B MB
American journal of human genetics 20020220 4
X-linked cone-rod dystrophy (COD1) is a retinal disease that primarily affects the cone photoreceptors; the disease was originally mapped to a limited region of Xp11.4. We evaluated the three families from our original study with new markers and clinically reassessed all key recombinants; we determined that the critical intervals in families 2 and 3 overlapped the RP3 locus and that a status change (from affected to probably unaffected) of a key recombinant individual in family 1 also reassigned ...[more]