How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?
Suzuki
Oscar T
OT
Bagatini
Kelly
K
Sertié
Andréa L
AL
Passos-Bueno
Maria Rita
MR
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
D043170:Collagen Type XVIII; D007797:Laminin