Literature DB >> 8395665

Screening for the APP codon 670/671 mutations in Alzheimer's disease.

H Houlden1, F Crawford, M Rossor, M Mullan.   

Abstract

A mutation at codons 670 and 671 of exon 16 of the amyloid precursor protein has recently been identified as a cause of early onset familial Alzheimer's disease. Using restriction enzyme digestion, screening failed to reveal the occurrence of this mutation in 43 families with early onset, 31 families with late onset, 30 cases of sporadic Alzheimer's disease or 30 clinically normal individuals.

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Year:  1993        PMID: 8395665     DOI: 10.1016/0304-3940(93)90196-r

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN: 0304-3940            Impact factor:   3.046


  2 in total

Review 1.  Genetic dissection of Alzheimer disease, a heterogeneous disorder.

Authors:  G D Schellenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-12       Impact factor: 11.205

2.  Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Authors:  Carlos Cruchaga; Gabe Haller; Sumitra Chakraverty; Kevin Mayo; Francesco L M Vallania; Robi D Mitra; Kelley Faber; Jennifer Williamson; Tom Bird; Ramon Diaz-Arrastia; Tatiana M Foroud; Bradley F Boeve; Neill R Graff-Radford; Pamela St Jean; Michael Lawson; Margaret G Ehm; Richard Mayeux; Alison M Goate
Journal:  PLoS One       Date:  2012-02-01       Impact factor: 3.240

  2 in total

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