High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: Vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Human Mutation

Volumn 27, Issue 7, 2006, Pages 696-704

  Richards, Allan J ^a   Laidlaw, Maureen ^a   Whittaker, Joanne ^b   Treacy, Becky ^b   Rai, Harjeet ^b   Bearcroft, Philip ^b   Baguley, David M ^b   Poulson, Arabella ^b   Ang, Alan ^b   Scott, John D ^b   Snead, Martin P ^b  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

COL11A1; COL11A2; COL2A1; Collagen; Stickler

Indexed keywords

COLLAGEN TYPE 11; COLLAGEN TYPE 11A1; COLLAGEN TYPE 11A2; COLLAGEN TYPE 2; COLLAGEN TYPE 2A1; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; COL11A1 GENE; COL11A2 GENE; COL2A1 GENE; DIAGNOSTIC VALUE; EXON; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STICKLER SYNDROME; STICKLER SYNDROME TYPE 1; VITREORETINOPATHY;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CLEFT PALATE; COLLAGEN TYPE II; DNA MUTATIONAL ANALYSIS; EXONS; EYE DISEASES, HEREDITARY; FEMALE; GENETIC SCREENING; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICE SITES; SYNDROME; VITREOUS BODY;

EID: 33745686061     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20347     Document Type: Article

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