title: Phenotypic variability associated with the D226N allele of IMPDH1.
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
authors.forename: Shahbaz
authors.initials: S
authors.lastname: Ali
authors.affiliation: The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland.
authors.forename: Shahid Y
authors.initials: SY
authors.lastname: Khan
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
authors.forename: Muhammad Asif
authors.initials: MA
authors.lastname: Naeem
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
authors.forename: Shaheen N
authors.initials: SN
authors.lastname: Khan
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
authors.forename: Tayyab
authors.initials: T
authors.lastname: Husnain
authors.affiliation: Department of Otorhinolaryngology, University of Maryland School of Medicine, Baltimore, Maryland.
authors.forename: Saima
authors.initials: S
authors.lastname: Riazuddin
authors.affiliation: Shiley Eye Center, University of California San Diego, La Jolla, California.
authors.forename: Radha
authors.initials: R
authors.lastname: Ayyagari
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
authors.affiliation: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: J Fielding
authors.initials: JF
authors.lastname: Hejtmancik
authors.affiliation: National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address: riazuddin@jhmi.edu.
authors.forename: S Amer
authors.initials: SA
authors.lastname: Riazuddin
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D002648:Child; D003241:Consanguinity; D004596:Electroretinography; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007168:IMP Dehydrogenase / Q000235:genetics*; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D010775:Photic Stimulation; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D055815:Young Adult
chemical_list: D007168:IMP Dehydrogenase; C488211:IMPDH1 protein, human