A novel CACNA1F mutation in a French family with the incomplete type of X-linked congenital stationary night blindness

American Journal of Ophthalmology

Volumn 135, Issue 5, 2003, Pages 733-736

  Jacobi, Felix Karl ^a   Hamel, Christian P ^b   Arnaud, Bernard ^b   Blin, Nikolaus ^c   Broghammer, Martina ^c   Jacobi, Philipp C ^d   Apfelstedt Sylla, Eckart ^e   Pusch, Carsten M ^c  

^a UNIVERSITY HOSPITAL GIESSEN   (Germany)

^b GUI DE CHAULIAC HOSPITAL   (France)

^c Abteilung Molekulare Genetik   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e KATHARINENHOSPITAL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; GENOMIC DNA;

ADULT; ARTICLE; CALCIUM CHANNEL ALPHA1 SUBUNIT GENE; CASE REPORT; CLINICAL FEATURE; CODON; CONTROLLED STUDY; FAMILIAL DISEASE; FRANCE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; MALE; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; VISUAL ACUITY; X LINKED CONGENITAL STATIONARY NIGHT BLINDNESS;

EID: 0037404189     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(02)02109-8     Document Type: Article

References (3)

1. Miyake Y., Yagasaki K., Horiguchi M., et al. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol. 104:1986;1013-1020.
2. Bech-Hansen N.T., Naylor M.J., Maybaum T.A., et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet. 19:1998;264-267.
3. Pusch C.M., Zeitz C., Brandau O., et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 26:2000;324-327.