TITLE

Fibrillin 3 Gene Mutation in Chinese Patients with Marfan Syndrome

AUTHOR(S)
Khizar Hayat; Xudong Yang; Shahzad, Muhammad; Li Miao; Lin Zhang; Nai Xue Sun
PUB. DATE
October 2011
SOURCE
Pakistan Journal of Zoology;2011, Vol. 43 Issue 5, p967
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article presents the study which analyzed the relationship between the mutations of the fibrillin-3 (FBN3) gene and Marfan syndrome (MFS). In the study, deoxyribonucleic acid (DNA) sequencing was used to assess the FBN3 gene in Chinese Han population patients with MFS. It defines MFS as an autosomal dominant disorder of the extracellular matrix. It also cites the Weill-Marchesani syndrome, which is a connective tissue disorder that is characterized by short stature, brachydactyly, joint stiffness and eye illnesses.
ACCESSION #
65827668

 

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