Journal article

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

S Freddi, R Savarirayan, JF Bateman

American Journal of Medical Genetics | WILEY-LISS | Published : 2000

DOI: 10.1002/(SICI)1096-8628(20000228)90:5<398::AID-AJMG10>3.0.CO;2-7

Citation metrics

42Web of Science
46Scopus

Keywords

Hereditary Arthro-Ophthalmopathy
Humans
Regulatory Mechanism
Reverse Transcriptase Polymerase Chain Reaction
Messenger-Rna
Point Mutation
Life Sciences & Biomedicine
Eye Diseases, Hereditary
Connective Tissue Diseases
Col2a1 Mutations
Translation-Terminating Mutations
Ii Procollagen Gene
Genetic Screening
Syndrome Arthroophthalmopathy
Nonsense Codons
Protein Truncation Test
Rna, Messenger
Genetic Testing
Osteogenesis Imperfecta
Abnormalities, Multiple
Pedigree
Science & Technology
Introns
Syndrome
Rapid Detection
Rna Splicing
Stickler Syndrome
Genetics & Heredity
Male
Female
Middle Aged
Collagen
Dna Mutational Analysis
Adult