@article{MAKHILLJAVA201211163661,
    title = {<I>GUCY2D</I> Gene Mutation in a Family with Leber Congenital Amaurosis},
    journal = {Journal of Animal and Veterinary Advances},
    volume = {11},
    number = {16},
    pages = {2953-2956},
    year = {2012},
    issn = {1680-5593},
    doi = {javaa.2012.2953.2956},
    url = {https://makhillpublications.co/view-article.php?issn=1680-5593&doi=javaa.2012.2953.2956},
    author = {Wu,Li and},
    keywords = {Leber congenital amaurosis,GUCY2D gene,disorder,physical signs,amino acid,template},
    abstract = {To detect and analyze <I>GUCY2D</I> gene mutations in a family with Leber Congenital Amaurosis (LCA) in China. Researchers collected peripheral blood samples from affected family members in three generations. Genomic DNA was extracted and all 20 exons of the <I>GUCY2D</I> gene were amplified using the DNA of the proband as the template. The ABI 3100 automated sequencer was used for sequencing. The sequencing results revealed one Single Nucleotide Polymorphism (SNP): c.154G.T (p.A52S) on exon 2 of the <I>GUCY2D</I> gene. The encoded amino acid changed from alanine to serine. All affected family members carried this SNP.}
    }