Characterisation of mutation of the SEDL (TRAPPC2) gene in patiens with X-linked spondyloepiphyseal dysplasia tarda from a region of Indonesia

Ruyani, Aceng and J, Jeyabalan and PT, Christie and Bhakti, Karyadi and Choirul, Muslim and Sipriyadi, Sipriyadi and Suherlan, Suherlan and RV, Thakker (2010) Characterisation of mutation of the SEDL (TRAPPC2) gene in patiens with X-linked spondyloepiphyseal dysplasia tarda from a region of Indonesia. In: Seminar Hasil PAR, 5 Oktober 2010, Hotel Millenium Jakarta.

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Abstract

Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive osteochondropdysplasia. It is a progressive skeletal disorder, in which affected males characteristically have a short neck and trunk, a barrel-shapped chest and hips that show degenerative diseas. Changes in spine and hips become evident between 10 to 14 years of ages

Item Type: Conference or Workshop Item (Paper)
Subjects: L Education > L Education (General)
Divisions: Faculty of Education > Department of Biology Education
Depositing User: 001 Bambang Gonggo Murcitro
Date Deposited: 08 Jul 2012 12:26
Last Modified: 08 Jul 2012 12:26
URI: https://repository.unib.ac.id/id/eprint/306

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