Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 7, 2011, Pages 4774-4779

  Nikopoulos, Konstantinos ^a,b   Schrauwen, Isabelle ^c   Simon, Marleen ^d   Collin, Rob W J ^a,b   Veckeneer, Marc ^e   Keymolen, Kathelijn ^f   van Camp, Guy ^c   Cremers, Frans P M ^a,b   Ingeborgh van den Born, L ^e  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e ROTTERDAM EYE HOSPITAL   (Netherlands)

^f UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIFYING CHONDRODYSTROPHY; CATARACT; CLINICAL ARTICLE; COL9A1 GENE; DNA SEQUENCE; DYSPLASIA; GENE; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTERVERTEBRAL DISK; MICROARRAY ANALYSIS; MYOPIA; OPEN READING FRAME; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DETACHMENT; SINGLE NUCLEOTIDE POLYMORPHISM; STICKLER SYNDROME; VITREOUS BODY; ARTHRITIS; COMPARATIVE STUDY; CONNECTIVE TISSUE DISEASE; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PROGNOSIS; VISUAL ACUITY;

COL9A1PROTEIN, HUMAN; COLLAGEN TYPE 9; DNA;

ADULT; AGED; ARTHRITIS; COLLAGEN TYPE IX; CONNECTIVE TISSUE DISEASES; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS; RETINAL DETACHMENT; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 80052414671     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-7128     Document Type: Article

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