A GLC1A gene Gln368Stop mutation in a patient with normal-tension open-angle glaucoma

Journal of Glaucoma

Volumn 8, Issue 2, 1999, Pages 154-156

  Mardin, C Y ^a   Velten, I ^a   Ozbey S ^a   Rautenstrauss, B ^a   Michels Rautenstrauss, K ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Gln368Stop mutation; MYOC TIGR; Normal tension glaucoma

Indexed keywords

MYOCILIN;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 1; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; GENE; GENE MUTATION; HUMAN; INTRAOCULAR HYPERTENSION; MALE; OPEN ANGLE GLAUCOMA; OPTIC NERVE ATROPHY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; TRABECULAR MESHWORK;

EID: 0033278268     PISSN: 10570829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00061198-199904000-00012     Document Type: Article

References (11)

1. Identification of a gene that causes primary open angle glaucoma
2. Recent advances in molecular genetics of glaucomas
3. Juvenile open angle glaucoma: Fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis
4. Genetic linkage of familial open angle glaucoma to chromosome 1q21-31
5. Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
6. Lageabhängigkeit des augeninnendrucks bei normaldruckglaukom
7. A novel myosin like protein (myocilin) expressed in the connecting cilium of the photoreceptor: Molecular cloning, tissue expression and chromosomal mapping
8. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product
9. Cloning and characterization of substracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homologus to myosin and olfactomedin
10. Inhibition of nonsense-mediated messenger RNA decay in clinical samples faciliates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques
11. Premature translational termination triggers mRNA decapping