Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene

American Journal of Ophthalmology

Volumn 130, Issue 1, 2000, Pages 130-131

  Blasi, M A ^a   Rinaldi, R ^b   Renieri, A ^c   Petrucci, R ^a   De Bernardo, C ^b   Bruttini, M ^c   Grammatico, P ^b  

^a UNIVERSITY OF L'AQUILA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ALPORT SYNDROME; ARTICLE; CASE REPORT; DISEASE ASSOCIATION; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; MISSENSE MUTATION; OPHTHALMOSCOPY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETINOPATHY; X CHROMOSOME LINKAGE;

ADULT; CASE REPORT; COLLAGEN; DNA MUTATIONAL ANALYSIS; HUMAN; LINKAGE (GENETICS); MALE; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINAL DISEASES; VISUAL ACUITY; X CHROMOSOME;

EID: 0033833736     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(00)00466-9     Document Type: Article

References (4)

1. Kashtan C.E., Michael A.F. Alport syndrome. Kidney Int. 50:1996;1445-1463.
2. Barker D.F., Hostikka S.L., Zhou J., et al. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 248:1990;1224-1227.
3. Colville D.J., Savige J. Alport syndrome a review of the ocular manifestations . Ophthalmic Genet. 18:1997;161-173.
4. Renieri A., Bruttini M., Galli L., et al. X-linked Alport syndrome an SSCP-based mutation survey over all 51 exons of the COL4A5 gene . Am J Hum Genet. 58:1996;1192-1204.