A novel missense Norrie disease mutation associated with a severe ocular phenotype

Journal of Pediatric Ophthalmology and Strabismus

Volumn 41, Issue 6, 2004, Pages 361-363

  Khan, Arif O ^a   Shamsi, Farrukh A ^a   Al Saif, Amr ^b   Kambouris, Marios ^b  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA SEQUENCE; HUMAN; INFANT; MALE; MISSENSE MUTATION; NORRIE DISEASE; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE;

EID: 9644289658     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: 10.3928/01913913-20041101-10     Document Type: Article

References (5)

1. OMIM, Online Mendelian Inheritance in Man. Baltimore, MD: Johns Hopkins University. MIM No. 310600 (4/13/2004). Available at www.ncbi.nlm.nih.gov/omim/. Accessed October 12, 2004.
2. Berger W, Meindl A, van de Pol TJR, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992;1:199-203.
3. Isashiki Y, Ohba N, Yanagita T, et al. Mutations in the Norrie disease gene: a new mutation in a Japanese family. Br J Ophthalmol 1995:79:703-704.
4. Meitinger T, Meindl A, Bork P, et al. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet 1993;5:376-380.
5. Richter M, Gottanka J, May CA, Welge-Lussen U, Berger W, Lutjen-Drecoll E. Retinal vasculature changes in Norrie disease mice. Invest Ophthalmol Vis Sci 1998:39:2450-2457.