Lanean...

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

Congenital cataract is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic cause of congenital cataract families. DNA samples of a large consanguineous Pakistani family were genotyped with a high resolution single nucleotide polymorphism Illumina...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Genes (Basel)
Egile Nagusiak: Micheal, Shazia, Niewold, Ilse Therésia Gabriëla, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Khan, Muhammad Imran, Bergen, Arthur A. B.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: MDPI 2018
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852608/
https://ncbi.nlm.nih.gov/pubmed/29461512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes9020112
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!