A G→A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.

التفاصيل البيبلوغرافية
العنوان:	A G→A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.
المؤلفون:	De Klein, Annelies, Riegman, Peter H.J., Bijlsma, Emilia K., Heldoorn, Anneliek, Muijtjens, Manja, den Bakker, Michael A., Avezaat, Cees J.J., Zwarthoff, Ellen C.
المصدر:	Human Molecular Genetics; Mar1998, Vol. 7 Issue 3, p393, 6p
مستخلص:	Describes the G to A transition within intron 5 of the neurofibromatosis type 2 gene resulting to hereditary disorder neurofibromatosis 2. Impact of gene inactivation in tumor formation; Formation of the mammalian splice imtermediate; Clinical manifestations of the disease; Incorporation of an additional exon in mitochondrial RNA.
قاعدة البيانات:	Complementary Index

الوصف
تدمد:	09646906
DOI:	10.1093/hmg/7.3.393