Mutations in PLCδ1 associated with hereditary leukonychia display divergent PIP2 hydrolytic function
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چکیده
منابع مشابه
Mutations in TITF-1 are associated with benign hereditary chorea.
Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and...
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Neurofibromatosis type 1 (NF1) is a common genetic disorder characterized by the occurrence of nerve sheath tumors and considerable clinical heterogeneity. Some translational studies have been limited by the lack of animal models available for assessing patient-specific mutations. In order to test therapeutic approaches that might restore function to the mutated gene or gene product, we develop...
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ژورنال
عنوان ژورنال: The FEBS Journal
سال: 2016
ISSN: 1742-464X
DOI: 10.1111/febs.13939