Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2
Petra Jakobs(Oregon Health & Science University), M. Litt(Hospital of the University of Pennsylvania), Richard G. Weleber(Oregon Health & Science University), Paul G. Fitzgerald(University of California, Davis), John F. Hess(University of California, Davis), Patricia Kramer(Oregon Health & Science University)
Cited by 179
Related Papers
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
|Nature Genetics|2011|2k
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
|Nature Genetics|1994|776
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
|Nature Genetics|2000|506
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
|Human Molecular Genetics|1998|447