title: Characterization of a mutation within the NDP gene in a family with a manifesting female carrier.
authors.affiliation: Molecular Neurogenetics Laboratory, Neuroscience Center, Massachusetts General Hospital-East, Charlestown 02129.
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Chen
authors.forename: E M
authors.initials: EM
authors.lastname: Battinelli
authors.forename: G
authors.initials: G
authors.lastname: Woodruff
authors.forename: I
authors.initials: I
authors.lastname: Young
authors.forename: X O
authors.initials: XO
authors.lastname: Breakefield
authors.forename: I W
authors.initials: IW
authors.lastname: Craig
mesh_terms: D001483:Base Sequence; D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002653:Child Behavior Disorders / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005796:Genes; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012160:Retina / Q000002:abnormalities*; D014960:X Chromosome
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins