Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
In: Human Mutation, Jg. 9 (1997), S. 110-117
Online
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Zugriff:
Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutations have been identified. Interestingly, these are all nonsense, frameshift or splice-site mutations; with one possible exception, missense mutations have not been found. This comprises all the known mutations in the disease. Hum Mutat 9:110–117, 1997. © 1997 Wiley-Liss, Inc.
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Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene
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| Autor/in / Beteiligte Person: | J.A.J.M. van den Hurk ; T.J.R. van de Pol ; Bleeker-Wagemakers, E.M. ; Pinckers, Alfred J. L. G. ; Schwartz, Marianne ; Ropers, H.H. ; Frans P.M. Cremers ; Rüther, Klaus ; Bogerd, Liesbeth ; J.H.L.M. van Bokhoven ; Pawlowitzki, I.H. |
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| Zeitschrift: | Human Mutation, Jg. 9 (1997), S. 110-117 |
| Veröffentlichung: | Hindawi Limited, 1997 |
| Medientyp: | unknown |
| ISSN: | 1098-1004 (print) ; 1059-7794 (print) |
| DOI: | 10.1002/(sici)1098-1004(1997)9:2<110::aid-humu2>3.0.co;2-d |
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