Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.

scientific article

Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1001/ARCHOPHTHALMOL.2012.265
P698PubMed publication ID22491393

P50authorCamiel J F BoonQ96272740
Lies H. HoefslootQ113000985
P2093author name stringAnneke I den Hollander
Caroline C W Klaver
Carel B Hoyng
Johannes P H van de Ven
Dzenita Smailhodzic
Frederieke Schoenmaker-Koller
Jeroen Klevering
Sacha Fauser
P433issue8
P407language of work or nameEnglishQ1860
P921main subjectbasal laminar drusenQ28065549
P304page(s)1038-1047
P577publication date2012-08-01
P1433published inJAMA OphthalmologyQ4787301
P1476titleClinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene.
P478volume130

Reverse relations

cites work (P2860)
Q47073487A functional variant in the CFI gene confers a high risk of age-related macular degeneration
Q52994303An evaluation of fundus photography and fundus autofluorescence in the diagnosis of cuticular drusen.
Q36039796Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration
Q35178889Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration
Q36194390Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration.
Q34550522Bestrophin 1 and retinal disease.
Q97530669Clinical manifestations of cuticular drusen in Korean patients
Q90353696Complement Activation Levels Are Related to Disease Stage in AMD
Q38265848Highly penetrant alleles in age-related macular degeneration
Q92579873Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen
Q36116190Mapping rare, deleterious mutations in Factor H: Association with early onset, drusen burden, and lower antigenic levels in familial AMD.
Q38599697Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene
Q39366882Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration
Q47142300Retinal findings in membranoproliferative glomerulonephritis.
Q39034874The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment
Q35967527Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration

Search more.