Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease

Chinese Journal of Medical Genetics

Volumn 22, Issue 1, 2005, Pages 79-81

  Ma, Hong Wei ^a   Lu, Jun Feng ^a   Jiang, Jun ^a   Chen, Li Ying ^a   Niu, Guo Hui ^a   Wu, Bao Min ^a   Kanazawa, Naomi ^b   Tsujino, Seiichi ^b  

^a CHINA MEDICAL UNIVERSITY   (China)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Alexander disease; Gene mutation; Glial fibrillary acidic protein gene

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ALEXANDER DISEASE; ARTICLE; CASE REPORT; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; INFANTILE ALEXANDER DISEASE; MUTATIONAL ANALYSIS; PARENT; PRENATAL DIAGNOSIS; RESTRICTION MAPPING;

ALEXANDER DISEASE; BASE SEQUENCE; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; MUTATION; POLYMERASE CHAIN REACTION;

EID: 13544271858     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Shiroma N, Kanazawa N, Kalo Z, et al. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev, 2003, 25: 116-121.
2. Brockmann K, Meins M, Taubert A, et al. A novel GFAP mutation and disseminated white matter lesions; adult Alexander disease? Eur Neurol, 2003, 50: 100-105.
3. Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet, 2001, 27: 117-120.
4. Quinlan R. Cytoskeletal catastrophe causes brain degeneration. Nat Genet, 2001, 27: 10-11.
5. Meins M, Brockmann K, Yadav S, et al. Infantile Alexander diseases a GFAP mutation in monozygotic twins and novel mutations in two other patients. Neuropediatrics, 2002, 33: 194-198.
6. Rodriguez D, Gauthier F, Bertini E, et al. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet, 2001, 69: 1134-1140.