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Mutation spectrum and splicing variants in the OPA1 gene
Delettre, Cécile, Griffoin, Jean-Michel, Kaplan, Josseline, Dollfus, Hélène, Lorenz, Birgit, Faivre, Laurence, Lenaers, Guy, Belenguer, Pascale and Hamel, Christian P. (2001) Mutation spectrum and splicing variants in the OPA1 gene. Human Genetics 109 (6), pp. 584-591.Date of publication of this fulltext: 19 Dec 2024 15:48
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| Item type | Article | ||||
| Journal or Publication Title | Human Genetics | ||||
| Publisher: | SPRINGER-VERLAG | ||||
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| Place of Publication: | NEW YORK | ||||
| Volume: | 109 | ||||
| Number of Issue or Book Chapter: | 6 | ||||
| Page Range: | pp. 584-591 | ||||
| Date | 2001 | ||||
| Institutions | Medicine > Lehrstuhl für Augenheilkunde | ||||
| Identification Number |
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| Keywords | DOMINANT OPTIC ATROPHY; DYNAMIN-RELATED PROTEIN; CHROMOSOME 3Q REGION; CLINICAL-FEATURES; LINKAGE ANALYSIS; COILED-COILS; KJER TYPE; LOCUS; FAMILY; YEAST; | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 73319 |
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