Physical Basis behind Achondroplasia, the Most Common Form of Human Dwarfism
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چکیده
منابع مشابه
FGFR3 heterodimerization in achondroplasia, the most common form of human dwarfism.
The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism. Achondroplasia is a heterozygous disorder, and thus the affected individuals express both wild-type and mutant FGFR3. Yet heterodimerization in achondroplasia has not been characterized thus far. To investigate the formation of FGFR3 hetero...
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Score notes: 5 means the best and 1 means the worst. 1. Is the question posed by the authors well defined? 4/5 2. Are the methods appropriate and well described? 3.5/5 3. Are the data sound? 3.5/5 4. Does the manuscript adhere to the relevant standards for reporting and data deposition? 3/5 5. Are the discussion and conclusions well balanced and adequately supported by the data? 2/5 6. Are limi...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2010
ISSN: 0021-9258
DOI: 10.1074/jbc.m109.094086