Premium
EFNS task force on molecular diagnosis of neurologic disorders Guidelines for the molecular diagnosis of inherited neurologic diseases First of two parts
Author(s) -
If the gene causing a neurologic disorder is known,
direct molecular diagnosis can be performed by mutational analysis. Only DNA from the affected …,
exons which are known to harbour mutations in the particular disorder will be amplified from DNA …,
the mutation will then be detected either directly by gel electrophoresis,
digestion by restriction enzymes or by direct sequencing. If a gene is very large and mutations are…,
direct mutational analysis can be very costly and time-consuming. In these cases,
Ricardo Gené,
where mutations may be clustered (e.g. in CADASIL,
where % of mutations are found in exons and of the Notch gene).
Publication year - 2001
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1046/j.1468-1331.2001.00226.x
Subject(s) - medicine , task force , physical medicine and rehabilitation , pediatrics , public administration , political science