A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide linkage analysis and array comparative genome hybridization, we identified a locus fo...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Kohl, Susanne, Llavona, Pablo, Sauer, Alexandra, Reuter, Peggy, Weisschuh, Nicole, Kempf, Melanie, Dehmelt, Florian Alexander, Arrenberg, Aristides B, Sliesoraityte, Ieva, Zrenner, Eberhart, van Schooneveld, Mary J, Rudolph, Günther, Kühlewein, Laura, Wissinger, Bernd
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2021
Gaiak:
General Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8212766/
https://ncbi.nlm.nih.gov/pubmed/33891002
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab117
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak