title: Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
authors.forename: Hannah
authors.initials: H
authors.lastname: Bogardus
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
authors.forename: Vincent P
authors.initials: VP
authors.lastname: Schulz
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, CT.
authors.forename: Yelena
authors.initials: Y
authors.lastname: Maksimova
authors.affiliation: Departments of Pediatrics and Biochemistry and Molecular Biology, Penn State University College of Medicine, Hershey, PA.
authors.forename: Barbara A
authors.initials: BA
authors.lastname: Miller
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Peining
authors.initials: P
authors.lastname: Li
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT, USA Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Bernard G
authors.initials: BG
authors.lastname: Forget
authors.affiliation: Department of Pediatrics, Yale University School of Medicine, New Haven, CT Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA Department of Pathology, Yale University School of Medicine, New Haven, CT, USA patrick.gallagher@yale.edu.
authors.forename: Patrick G
authors.initials: PG
authors.lastname: Gallagher
mesh_terms: D017487:Ankyrins / Q000172:deficiency* / Q000235:genetics; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D005091:Exons; D005260:Female; D018628:Gene Dosage; D056426:Genetic Loci; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D012720:Severity of Illness Index; D013049:Spectrin / Q000235:genetics*; D013103:Spherocytosis, Hereditary / Q000235:genetics* / Q000473:pathology; D024182:Uniparental Disomy / Q000235:genetics* / Q000473:pathology
chemical_list: D017487:Ankyrins; D013049:Spectrin
keywords: anemia; chromosome 1q; erythrocyte; isodisomy; membrane; spectrin; spherocytosis; uniparental disomy