Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Vijzelaar, Raymon ^a   Waller, Sarah ^b,c   Errami, Abdellatif ^a   Donaldson, Alan ^d   Lourenco, Teresa ^e   Rodrigues, Marcia ^e   McConnell, Vivienne ^f   Fincham, Gregory ^b   Snead, Martin ^b   Richards, Allan ^b,g  

^a MRC HOLLAND   (Netherlands)

^b ADDENBROOKE S HOSPITAL   (United Kingdom)

^c ST MARY S HOSPITAL   (United Kingdom)

^d UNIVERSITY HOSPITALS BRISTOL NHS FOUNDATION TRUST   (United Kingdom)

^e HOSPITAL DONA ESTEFÂNIA   (Portugal)

^f BELFAST CITY HOSPITAL   (United Kingdom)

^g UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

COL11A1; MLPA; Molecular analysis; Stickler syndrome

Indexed keywords

COLLAGEN TYPE 1;

ADULT; ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; RETINA DETACHMENT; SEQUENCE ANALYSIS; STICKLER SYNDROME;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; COLLAGEN TYPE XI; CONNECTIVE TISSUE DISEASES; EXONS; FEMALE; GENE DELETION; GENE FREQUENCY; HUMANS; INFANT; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; VITREOUS DETACHMENT;

EID: 84876679102     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-48     Document Type: Article

References (11)

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