6533b7d5fe1ef96bd1263e18
RESEARCH PRODUCT
Identification of three novel mutations in the MYO7A gene
M.j. TrujilloJm MillánJosé M. CuevasCarmen AyusoMagdalena BeneytoFrancisco SánchezC. NájeraCarmen Espinóssubject
MaleMYO7AHearing Loss SensorineuralUsher syndromeMyosinsBiologymedicine.disease_causeExonRetinitis pigmentosaMyosinotorhinolaryngologic diseasesGeneticsmedicineHumansGenePolymorphism Single-Stranded ConformationalGenetics (clinical)GeneticsMutationBase SequenceChromosomes Human Pair 11fungiDyneinsSyndromemedicine.diseasePhenotypeeye diseasesPedigreePhenotypeMyosin VIIaMutationFemaleRetinitis Pigmentosadescription
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype. Hum Mutat 14:181, 1999. Copyright 1999 Wiley-Liss, Inc.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1999-07-29 | Human Mutation |