American Journal of Human Genetics 1998 James R. Lupski - Abstracts
| American Journal of Human Genetics 1998 James R. Lupski | |||||
| Title | Subject | Authors | |||
|---|---|---|---|---|---|
| Genetic mapping refines DFNB3 (ital) to 17p11.2, suggests multiple alleles of DFNB3 (ital), and supports homology to the mouse model shaker-2 (ital).(nonsyndromic congenital recessive deafness gene) | Biological sciences | Edward R. Wilcox, Thomas B. Friedman, James R. Lupski, Sally A. Camper, David F. Dolan, Yong Liang, Frank J. Probst, Aihui Wang, I. Nyoman Arhya, Thomas D. Barber, Ken-Shiung Chen, Dilip Deshmukh, John T. Hinnant, Lynn E. Carter, Pawan K. Jain, Anil K. Lalwani, Xiaoyan C. Li, Sukarti Moeljopawiro, Robert Morell, Clelia Negrini, Sunaryana Winata | |||
| Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients. | Biological sciences | Christine Van Broeckhoven, James R. Lupski, Peter De Jonghe, Lawrence T. Reiter, Philip J. Hastings, Eva Nelis | |||
| Mutations in CYP1B1, the gene for cytochrome P4501, are the predominant cause of primary congenital glaucoma in Saudi Arabia. | Biological sciences | Richard Alan Lewis, Mark Leppert, James R. Lupski, Bassem A. Bejjani, Karim F. Tomey, Kent L. Anderson, David K. Dueker, Monzer Jabak, William F. Astle, Brith Otterud | |||
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