title: How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
authors.forename: Oscar T
authors.initials: OT
authors.lastname: Suzuki
authors.forename: Kelly
authors.initials: K
authors.lastname: Bagatini
authors.forename: Andréa L
authors.initials: AL
authors.lastname: Sertié
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D000483:Alleles; D001938:Brazil; D043170:Collagen Type XVIII / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D007797:Laminin / Q000378:metabolism; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D013577:Syndrome
chemical_list: D043170:Collagen Type XVIII; D007797:Laminin