Ontology highlight
ABSTRACT:
SUBMITTER: Rodriguez D
PROVIDER: S-EPMC1274357 | biostudies-literature | 2001 Nov
REPOSITORIES: biostudies-literature
Rodriguez D D Gauthier F F Bertini E E Bugiani M M Brenner M M N'guyen S S Goizet C C Gelot A A Surtees R R Pedespan J M JM Hernandorena X X Troncoso M M Uziel G G Messing A A Ponsot G G Pham-Dinh D D Dautigny A A Boespflug-Tanguy O O
American journal of human genetics 20010920 5
Heterozygous, de novo mutations in the glial fibrillary acidic protein (GFAP) gene have recently been reported in 12 patients affected by neuropathologically proved Alexander disease. We searched for GFAP mutations in a series of patients who had heterogeneous clinical symptoms but were candidates for Alexander disease on the basis of suggestive neuroimaging abnormalities. Missense, heterozygous, de novo GFAP mutations were found in exons 1 or 4 for 14 of the 15 patients analyzed, including pati ...[more]