Article
An analysis of PAX1 in the development of vertebral malformations.
Clinical genetics - 1 Nov 2005
Giampietro P F, Raggio C L, Reynolds C E, Shukla S K, McPherson E, Ghebranious N, Jacobsen F S, Kumar V, Faciszewski T, Pauli R M, Rasmussen K, Burmester J K, Zaleski C, Merchant S, David D, Weber J L, Glurich I, Blank R D
Abstract excerpt
An analysis of PAX1 in the development of vertebral malformations. Due to the sporadic occurrence of congenital vertebral malformations, traditional linkage approaches to identify genes associated with human vertebral development are not possible. We therefore identified PAX1 as a candidate gene in vertebral malformations and congenital scoliosis due to its mutation in the undulated mouse. We performed DNA...
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