Frederick T Collison Yajing Angela Xie Tomasz Gambin Shalini Jhangiani Donna Muzny Richard Gibbs James R Lupski Gerald A Fishman Rando Allikmets
10.3109/13816810.2015.1010736
Ophthalmic Genet
2015;36(3):270-5.
bull’s eye maculopathy methylmalonic aciduria and homocystinuria type c (mmachc) whole-exome sequencing
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/25687216/
Carrier Proteins / genetics Exome / genetics Homocystinuria / diagnosis Homocystinuria / genetics Macular Degeneration / genetics Mutation Vitamin B 12 Deficiency / congenital
Carrier Proteins / genetics Exome / genetics Homocystinuria / diagnosis Homocystinuria / genetics Macular Degeneration / genetics Mutation Vitamin B 12 Deficiency / congenital Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Adult Electroretinography Female Genetic Testing Heterozygote Homocystinuria / drug therapy Humans Oxidoreductases Pedigree Scotoma / diagnosis Sequence Analysis, DNA Tomography, Optical Coherence Visual Acuity / physiology Visual Fields / physiology Vitamin B 12 / therapeutic use Vitamin B 12 Deficiency / diagnosis Vitamin B 12 Deficiency / drug therapy Vitamin B 12 Deficiency / genetics Vitamin B Complex / therapeutic use Carrier Proteins Vitamin B Complex MMACHC protein, human Oxidoreductases Vitamin B 12 Macular dystrophy, concentric annular Methylmalonic acidemia with homocystinuria
PMC4539287
25687216
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy
2015