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Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II.

In the course of analysis of ENU-induced mutations in Syrian hamsters, a novel dominant anophthalmic white mutant (Wh(V203)) with hearing loss was recovered. Because of this phenotype and a close linkage to the Tpi gene, the Mitf gene was considered as a candidate gene. In the Mitf cDNA, a deletion...

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Autors principals: Graw, Jochen, Pretsch, Walter, Löster, Jana
Format: Artigo
Idioma:Inglês
Publicat: 2003
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1462622/
https://ncbi.nlm.nih.gov/pubmed/12871913
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