Variant: rs149396611 

    present in Gene: FBLN5
    present in Chromosome: 14
    Position on Chromosome: 91883017
    Alleles of this Variant: C/T

rs149396611 in FBLN5 gene and Cutis Laxa, Autosomal Recessive, Type I PMID 20599547 2010 Biophysical characterisation of fibulin-5 proteins associated with disease.

PMID 16652333 2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

PMID 20007835 2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

PMID 12189163 2002 Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

PMID 18185537 2008 A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

PMID 16691202 2006 Homozygous missense mutation in fibulin-5 in an Iranian autosomal recessive cutis laxa pedigree and associated haplotype.

PMID 17035250 2006 Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa.

rs149396611 in FBLN5 gene and NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION PMID 21576112 2011 Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.

PMID 20007835 2010 Structural effects of fibulin 5 missense mutations associated with age-related macular degeneration and cutis laxa.

PMID 20599547 2010 Biophysical characterisation of fibulin-5 proteins associated with disease.

PMID 15269314 2004 Missense variations in the fibulin 5 gene and age-related macular degeneration.

PMID 23328402 2013 Czech family confirms the link between FBLN5 and Charcot-Marie-Tooth type 1 neuropathy.

PMID 16652333 2006 Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.