Diagnosis of oculocutaneous albinism with molecular analysis

American Journal of Ophthalmology

Volumn 121, Issue 6, 1996, Pages 724-726

  Summers, C G ^a   Oetting, W S ^a   King, R A ^a  

^a UNIV OF MINNESOTA HOSP AND CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MONOPHENOL MONOOXYGENASE;

ADULT; ARTICLE; CASE REPORT; EVOKED VISUAL RESPONSE; FEMALE; GENE MUTATION; HUMAN; HYPOPLASIA; OCULOCUTANEOUS ALBINISM; OPHTHALMOLOGY; OPTIC CHIASM; PRIORITY JOURNAL; RETINA FOVEA; STRABISMUS; VISUAL ACUITY;

EID: 0029984965     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(14)70647-6     Document Type: Article

References (5)

1. CG Summers WH Knobloch CJ Witkop Jr RA. King Hermansky-Pudlak syndrome: ophthalmic findings Ophthalmology 95 1988 545 554
2. D Creel H Spekreijse D. Reits Evoked potentials in albinos: efficacy of pattern stimuli in detecting misrouted optic fibers Electroencephalogr Clin Neurophysiol 52 1981 595 603
3. WS Oetting JP Fryer Y Oofuji LR Middendorf JA Brumbaugh CG Summers Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons Electrophoresis 15 1994 159 164
4. CG Summers D Creel D Townsend RA. King Variable expression of vision in sibs with albinism Am J Med Genet 40 1991 327 331
5. S Castronuovo JW Simon GL Kandel A Morier B Wolf CJ Witkop Variable expression of albinism within a single kindred Am J Ophthalmol 111 1991 419 426