Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.
نویسندگان
چکیده
منابع مشابه
Four frameshift mutations in neurofibromatosis type 1 caused by small insertions.
We have been using heteroduplex analysis to assay individual exons within the NF1 gene in an effort to identify disease causing constitutional mutations in neurofibromatosis type 1 patients. Here we report the identification and characterisation of four insertional NF1 frameshift mutations in an analysis of exons 28-39 in a set of 78 patients. These include three 1 base pair insertions and one ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1997
ISSN: 1468-6244
DOI: 10.1136/jmg.34.7.579