P1148A in fibrillin-1 is not a mutation anymore
نویسندگان
چکیده
منابع مشابه
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules. These and other connective tissue abnormalities have made Tskl + mice models for scleroderma, hereditary emphysema, and myocardial hypertrophy. Previously we localized Tsk to mouse chromosome 2 in a region syntenic with human chromosome 15. The ...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 1997
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng0197-12