Sanger sequencing of an ENU mutation at the Col2a1 locus.
Autoimmune Polyglandular Syndrome Type 1: a case report | BMC Medical Genetics | Full Text
Molecular diagnosis of McArdle disease using whole-exome sequencing
Decoding of Superimposed Traces Produced by Direct Sequencing of Heterozygous Indels | PLOS Computational Biology
ExoSeq: capillary PCR resequencing of human coding exons - Wellcome Sanger Institute
Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome | Orphanet Journal of Rare Diseases | Full Text
A novel LOXHD1 variant in a Chinese couple with hearing loss - Chuan Zhang, Shengju Hao, Yali Liu, Bingbo Zhou, Furong Liu, Lei Zheng, Panpan Ma, Qing Liu, Xiaojuan Lin, Yousheng Yan,