Further Associations between Mutations and Polymorphisms in the<i>ABCA4</i>Gene: Clinical Implication of Allelic Variants and Their Role as Protector/Risk Factors

Abstract

Although the high allelic heterogeneity in ABCA4 and the wide spectrum of many common and rare polymorphisms complicate the interpretation of clinical relevance, polymorphisms were identified that may act as risk factors (p.Asn1868Ile) and others that may act as protection factors (p.His423Arg and IVS10+5 delG).