Abstract：
:A single-strand conformational polymorphism found in the DNA of a patient with neurofibromatosis 1 (NF1) was shown to be caused by a deletion of a CCACC or CACCT sequence and an adjacent transversion, located about 500 base pairs downstream from the region that codes for a functional domain of the NF1 gene product. This mutation could also be detected in the patient and in his affected daughter by heteroduplex analysis. The deletion removes the proximal half of a small potential stem-loop and interrupts the reading frame in exon 1. A severely truncated protein with a grossly altered carboxy terminus lacking one third of its sequence is expected to be formed from the mutant allele.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Stark M,Assum G,Krone Wdoi
10.1007/BF00201726subject
Has Abstractpub_date
1991-10-01 00:00:00pages
685-7issue
6eissn
0340-6717issn
1432-1203journal_volume
87pub_type
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