How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?

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Bibliographic Details
Published in:Human mutation 2005-03, Vol.25 (3), p.314-315
Main Authors: Suzuki, Oscar T., Bagatini, Kelly, Sertié, Andréa L., Passos-Bueno, Maria Rita
Format: Article
Language:English
Subjects:
Alleles
Brazil
Collagen Type XVIII - chemistry
Collagen Type XVIII - genetics
Collagen Type XVIII - physiology
Female
Gene Frequency
Heterozygote
Humans
Laminin - metabolism
Male
Phenotype
Polymorphism, Single Nucleotide
Syndrome
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ISSN:1059-7794
1098-1004
DOI:10.1002/humu.20139