Results 181 to 184 of about 4,059 (184)

Mutation Screening for the EXT1 and EXT2 Genes in Chinese Patients with Multiple Osteochondromas

Archives of Medical Research, 2013
Multiple osteochondromas (MO), an autosomal dominant skeletal disease, is characterized by the presence of multiple cartilage-capped bone tumors (exostoses). Two genes with mutations that are most commonly associated with MO have been identified as EXT1 and EXT2, which are Exostosin-1 and Exostosin-2.
Qing-lin Kang, Zhen-Lin Zhang, Jia Xu, Jia Xu, Jin-Wei He, Wen-Zhen Fu, Zeng Zhang   +6 more
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New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas

Annals of Human Genetics, 2009
SummaryMutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German patients affected by MO.
Heinritz, W., Huffmeier, U., Strenge, S., Miterski, B., Zweier, C., Leinung, S., Bohring, A., Mitulla, B., Peters, U., Froster, U.G.   +9 more
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Multiple exostoses gene, EXT1 and heparan sulfate biosynthesis

2002
Hereditary multiple exostoses (HME), a dominantly inherited genetic disorder characterized by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 and EXT2. The corresponding gene products, exostosin-1 (EXT1) and exostosin-2 (EXT2) are type II transmembrane glycoproteins which form a Golgi-Iocalized hetero ...
openaire   +2 more sources

Ext1 localement analytique et compatibilité local-global [PDF]

American Journal of Mathematics, 2019
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