Molecular diagnosis of stickler syndrome: A COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

American Journal of Medical Genetics

Volumn 90, Issue 5, 2000, Pages 398-406

  Freddi, Susanna ^a   Savarirayan, Ravi ^b   Bateman, John F ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

COL2A1 mutations; Hereditary arthro ophthalmopathy; Protein truncation test; Stickler syndrome

Indexed keywords

CYCLOHEXIMIDE; MESSENGER RNA; MUTANT PROTEIN;

ADULT; ARTICLE; CASE REPORT; GENE AMPLIFICATION; HUMAN; MALE; MOLECULAR GENETICS; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCREENING TEST; STICKLER SYNDROME; STOP CODON;

ABNORMALITIES, MULTIPLE; ADULT; CONNECTIVE TISSUE DISEASES; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; FEMALE; GENETIC SCREENING; HUMANS; INTRONS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SYNDROME;

EID: 0034723721     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000228)90:5<398::AID-AJMG10>3.0.CO;2-7     Document Type: Article

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