Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria

Tracy Dixon-Salazar; Jennifer L. Silhavy; Sarah E. Marsh; Carrie M. Louie; Lesley C. Scott; Aithala Gururaj; Lihadh Al-Gazali; Asma A. Al-Tawari; Hulya Kayserili; László Sztriha; Joseph G. Gleeson

作者Tracy Dixon-Salazar; Jennifer L. Silhavy; Sarah E. Marsh; Carrie M. Louie; Lesley C. Scott; Aithala Gururaj; Lihadh Al-Gazali; Asma A. Al-Tawari; Hulya Kayserili; László Sztriha; Joseph G. Gleeson
卷第75卷
期第6期
印刷ISSN0002-9297
电子ISSN1537-6605
文件大小2507.95KB
发表时间2004
DOI10.1086/425985

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Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria