A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas
نویسندگان
چکیده
منابع مشابه
Novel mutation of EXT2 identified in a large family with multiple osteochondromas
Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase‑1 (EXT1) and exostosin glycosyl transferase‑2 (EXT2), including missense, nonsense, frameshift and splice‑site mutations, account for up to 80% of reported cases. The proteins EXT1 and EXT2 form a hetero‑oligomeric complex that functions...
متن کاملIdentification of a novel frameshift mutation of the EXT2 gene in a family with multiple osteochondroma
Multiple osteochondroma (MO), also known as multiple hereditary exostoses, is an autosomal dominant skeletal disorder with characteristic multiple cartilage-capped tumours (osteochondromas or exostoses) growing outward from the metaphyseal region of the long tubular bones. Mutations in exostosin glycosyltransferase 1 (EXT1) or EXT2 are the most commonly associated mutations with MO and are resp...
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ژورنال
عنوان ژورنال: Oncology Letters
سال: 2018
ISSN: 1792-1074,1792-1082
DOI: 10.3892/ol.2018.9248