Concepedia

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

Christina Zeitz, Samuel G. Jacobson, Christian Hamel, Kinga M. Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie‐Elise Lancelot, Christelle Michiels, Sharon Schwartz,

The American Journal of Human Genetics · 2012 · 138 citations · 43 references

DOIFull text

Open access

Concepts

References

43

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

, , +17

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

, , +4

Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

Bech-Hansen Nt, Ben F. Koop, M. B. Mets et al. · Nature Genetics · 1998 · 518 citations

, , +14

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Tim M. Strom, Gerald Nyakatura, Eckart Apfelstedt-Sylla et al. · Nature Genetics · 1998 · 504 citations

, , +12

Congenital Stationary Night Blindness With Negative Electroretinogram

Yozo Miyake · Archives of Ophthalmology · 1986 · 456 citations

, , +15