SCOPUS 정보 검색 플랫폼

Clinical Genetics

Volumn 67, Issue 1, 2005, Pages 102-103

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1 [1]

(8) Amati Bonneau, Patrizia a Pasquier, L b Lainey, E b Ferre M b Odent, S b Malthiery Y b Bonneau, D b Reynier, P b

a ANGERS UNIVERSITY HOSPITAL (France)

b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MITOCHONDRIAL PROTEIN;

ADULT; AMINO ACID ANALYSIS; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CODON; DISEASE COURSE; EXON; FREQUENCY ANALYSIS; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; LETTER; MALE; OPTIC NERVE ATROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS; VISUAL ACUITY;

ADULT; CODON; EXONS; FRAMESHIFT MUTATION; GTP PHOSPHOHYDROLASES; HUMANS; MALE; OPTIC ATROPHY, AUTOSOMAL DOMINANT; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING;

EID: 12744272023 PISSN: 00099163 EISSN: None Source Type: Journal
DOI: 10.1111/j.1399-0004.2004.00358.x Document Type: Letter

Times cited : (9)

References (7)

1
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- Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
- Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthalmol Scand 1959: 37 (Suppl. 54): 1-146.
- (1959) Acta Ophthalmol. Scand. , vol.37 , Issue.SUPPL. 54 , pp. 1-146
- Kjer, P.¹

2
- 20244381365
- Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
- Delettre C, Lenaers G, Griffoin J-M et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000: 26: 207-210.
- (2000) Nat. Genet. , vol.26 , pp. 207-210
- Delettre, C.¹ Lenaers, G.² Griffoin, J.-M.³

3
- 0033772264
- OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
- Alexander C, Votruba M, Pesch UE et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000: 26: 211-215.
- (2000) Nat. Genet. , vol.26 , pp. 211-215
- Alexander, C.¹ Votruba, M.² Pesch, U.E.³

4
- 1442307728
- Fourteen new OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy
- Baris O, Delettre C, Amati-Bonneau P et al. Fourteen new OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. Hum Mutat 2003: 21: 656.
- (2003) Hum. Mutat. , vol.21 , pp. 656
- Baris, O.¹ Delettre, C.² Amati-Bonneau, P.³

5
- 0344873191
- The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene
- Amati-Bonneau P, Odent S, Derrien C et al. The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. Am J Ophthalmol 2003: 136: 1171-1172.
- (2003) Am. J. Ophthalmol. , vol.136 , pp. 1171-1172
- Amati-Bonneau, P.¹ Odent, S.² Derrien, C.³

6
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- Genomic variants in exons and introns: Identifying the splicing spoilers
- Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 2004: 5: 389-396.
- (2004) Nat. Rev. Genet. , vol.5 , pp. 389-396
- Pagani, F.¹ Baralle, F.E.²

7
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- Mutation spectrum and splicing variants in the OPA1 gene
- Delettre C, Griffoin JM, Kaplan J et al. Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 2001: 109: 584-591.
- (2001) Hum. Genet. , vol.109 , pp. 584-591
- Delettre, C.¹ Griffoin, J.M.² Kaplan, J.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.