Variable expressivity of <it>FGF3 </it>mutations associated with deafness and LAMM syndrome

by Griffith Andrew J, Butman John A, Riazuddin Sheikh, Shaukat Uzma, Nasir Idrees, Khan Shaheen N, Hegde Rashmi S, Ahmed Zubair M, Riazuddin Saima, Friedman Thomas B, Choi Byung
Published 2011-02-01

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

by Shotland Lawrence I, Ploplis Barbara, MacLaren Linda, Dhillon Kiran, Luscombe Sandra, Ahmad Zahoor, Ramzan Khushnooda, Young Terry-Lynn, Riazuddin Saima, Powell Shontell D, Cindy Li Xiaoyan, Ahmed Zubair M, Ives Elizabeth, Riazuddin Sheikh, Friedman Thomas B, Morell Robert J, Wilcox Edward R
Published 2004-09-01