Mutation Scrambling: A Gene Library with All Combinations of Mutations
نویسندگان
چکیده
منابع مشابه
I-Cell Disease with GNPTAB Gene Mutation
I-cell disease is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical features of this condition mimic that of Hurler disease mutation studies help in the diagnosis. We present a case of I-cell disease in a neonate with GNPTAB gene mutation.
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ژورنال
عنوان ژورنال: Seibutsu Butsuri
سال: 2000
ISSN: 0582-4052,1347-4219
DOI: 10.2142/biophys.40.121