Condition: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
rs121434299
in
FBLN5
gene and
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
PMID 15269314
2004 Missense variations in the fibulin 5 gene and age-related macular degeneration.
PMID 16652333
2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.
PMID 20599547
2010 Biophysical characterisation of fibulin-5 proteins associated with disease.
PMID 20007835
2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.
PMID 21576112
2011 Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
PMID 23328402
2013 Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.