Associated Papers
Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.
Zhou Y et al.
Molecular Medicine Reports, 2021
33576469 (PubMed )
Supplement: Supplementary_Data.pdf
Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.
Jensen SA et al.
Plos One, 2021
33735269 (PubMed )
Supplement: pone.0248532.s001.xlsx › S1_Table
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang H et al.
Scientific Reports, 2016
Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
Yang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
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