High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region

Genetic homogeneity, high-resolution map

Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene

✍ Wang, Cong-Yi; Huang, Yi-Qun; Shi, Jing-Da; Marron, Michele P.; Ruan, Qing-Guo; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 55 KB 👁 2 views

The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Previously, we mapped the gene to a genomic interval of approximately 1 cM on chromosome region 10q23-24, using families from Columbia. Here we demonstr