Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
Tavormina, Patricia L.; Rimoin, David L.; Cohn, Daniel H.; Zhu, Ya-Zhen; Shiang, Rita; Wasmuth, John J.; Tavormina Patricia L.; Department of Biological Chemistry, University of California; Rimoin David L.; Cedars-Sinai Research Institute and Department of Pediatrics, UCLA School of Medicine; Cohn Daniel H.; Cedars-Sinai Research Institute and Department of Pediatrics, UCLA School of Medicine; Zhu Ya-Zhen; Department of Biological Chemistry, University of California; Shiang Rita; Department of Biological Chemistry, University of California; Wasmuth John J.; Department of Biological Chemistry, University of California
Журнал:
Human Molecular Genetics
Дата:
1995
1.902Мб