Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 252, Issue 11, 2014, Pages 1789-1794

  Zenteno, Juan C ^a   Crespí, Jaume ^b   Buentello Volante, Beatriz ^a   Buil, Jose A ^b   Bassaganyas, Francisca ^b   Vela Segarra, Jose I ^b   Diaz Cascajosa, Jesus ^b   Marieges, Maria T ^b  

^a UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

^b UNIVERSITY OF BARCELONA   (Spain)

Author keywords

COL4A1; FRAT; Retinal arteriolar tortuosity; Retinal hemorrhages

Indexed keywords

FLUORESCEIN; MEMBRANE PROTEIN; COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; COL4A1 GENE; CONGENITAL BLOOD VESSEL MALFORMATION; DATA BASE; DAUGHTER; DNA SEQUENCE; EXOME; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RETINA ANGIOGRAPHY; RETINA DISEASE; RETINA HEMORRHAGE; RETINAL ARTERIOLAR TORTUOSITY; SLIT LAMP; TONOMETRY; VISUAL ACUITY; ARTERIOLE; CASE REPORT; CONGENITAL MALFORMATION; FLUORESCENCE ANGIOGRAPHY; GENETICS; HIGH THROUGHPUT SEQUENCING; MAGNETIC RESONANCE ANGIOGRAPHY; PATHOLOGY; POLYMERASE CHAIN REACTION; RETINA ARTERY; RETINAL TELANGIECTASIA; YOUNG ADULT;

ADOLESCENT; ARTERIOLES; COLLAGEN TYPE IV; EXOME; FEMALE; FLUORESCEIN ANGIOGRAPHY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL ARTERY; RETINAL HEMORRHAGE; RETINAL TELANGIECTASIS; VISUAL ACUITY; YOUNG ADULT;

EID: 84920903757     PISSN: 0721832X     EISSN: 1435702X     Source Type: Journal    
DOI: 10.1007/s00417-014-2800-6     Document Type: Article

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