Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bulls Eye Maculopathy

Ophthalmic Genetics

Volumn 36, Issue 3, 2015, Pages 270-275

  Collison, Frederick T ^a   Xie, Yajing ^b   Gambin, Tomasz ^c   Jhangiani, Shalini ^c   Muzny, Donna ^c   Gibbs, Richard ^c   Lupski, James R ^c   Fishman, Gerald A ^a,d   Allikmets, Rando ^b,e  

^a Pangere Center for Hereditary Retinal Diseases   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^e NewYork Presbyterian Hospital   (United States)

Author keywords

Bull's eye maculopathy; methylmalonic aciduria and homocystinuria type C (MMACHC); wholeexome sequencing

Indexed keywords

CARNITINE; CREATININE; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID; CARRIER PROTEIN; CYANOCOBALAMIN; MMACHC PROTEIN, HUMAN; VITAMIN B COMPLEX;

ABCA4 GENE; ADULT; ARTICLE; BULL EYE MACULOPATHY; CASE REPORT; CENTRAL SCOTOMA; CREATININE BLOOD LEVEL; DISEASE ASSOCIATION; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HISPANIC; HOMOCYSTINURIA; HUMAN; IRON DEFICIENCY ANEMIA; KIDNEY INFECTION; LABORATORY TEST; MEDICAL HISTORY; METHYLMALONIC ACIDURIA; PHENOTYPE; PRIORITY JOURNAL; RETINA MACULOPATHY; URINARY TRACT INFECTION; VISION; DNA SEQUENCE; ELECTRORETINOGRAPHY; GENETIC SCREENING; GENETICS; HETEROZYGOTE; MACULAR DEGENERATION; MUTATION; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PHYSIOLOGY; SCOTOMA; VISUAL ACUITY; VISUAL FIELD; VITAMIN B 12 DEFICIENCY;

ADULT; CARRIER PROTEINS; ELECTRORETINOGRAPHY; EXOME; FEMALE; GENETIC TESTING; HETEROZYGOTE; HOMOCYSTINURIA; HUMANS; MACULAR DEGENERATION; MUTATION; PEDIGREE; SCOTOMA; SEQUENCE ANALYSIS, DNA; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS; VITAMIN B 12; VITAMIN B 12 DEFICIENCY; VITAMIN B COMPLEX;

EID: 84941332755     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2015.1010736     Document Type: Article

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