Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Tela...

por Maroilley, Tatiana, Wright, Nicola A. M., Diao, Catherine, MacLaren, Linda, Pfeffer, Gerald, Sarna, Justyna R., Billie Au, Ping Yee, Tarailo-Graovac, Maja
Publicado 2022

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

por Ahmed, Zubair M, Cindy Li, Xiaoyan, Powell, Shontell D, Riazuddin, Saima, Young, Terry-Lynn, Ramzan, Khushnooda, Ahmad, Zahoor, Luscombe, Sandra, Dhillon, Kiran, MacLaren, Linda, Ploplis, Barbara, Shotland, Lawrence I, Ives, Elizabeth, Riazuddin, Sheikh, Friedman, Thomas B, Morell, Robert J, Wilcox, Edward R
Publicado 2004