Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome

American Journal of Human Genetics

Volumn 71, Issue 6, 2002, Pages 1320-1329

  Suzuki, O T ^a   Sertie A L ^a,c   Der Kaloustian, V M ^d   Kok, F ^a   Carpenter, M ^e   Murray, J ^f   Czeizel, A E ^g   Kliemann, S E ^b   Rosemberg, S ^b   Monteiro, M ^a   Olsen, B R ^h   Passos Bueno, Maria Rita ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Medical School of Santa Casa of Sao Paulo   (Brazil)

^c UNIVERSITY OF TORONTO   (Canada)

^d MCGILL UNIVERSITY   (Canada)

^e MAINE MEDICAL CENTER   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g FOUNDATION FOR THE COMMUNITY CONTROL OF HEREDITARY DISEASES   (Hungary)

^h HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN; COLLAGEN TYPE 18; DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLINDNESS; CHILD; CHROMOSOME 21Q; CLINICAL ARTICLE; COL18A1 GENE; ENZYME LINKED IMMUNOSORBENT ASSAY; EPILEPSY; EYE DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HAPLOTYPE; HUMAN; KNOBLOCH SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VITREORETINAL DEGENERATION;

EID: 0036913635     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/344695     Document Type: Article

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