Characterization of a mutation within the NDP gene in a family with a manifesting female carrier

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Veröffentlicht in:	Human molecular genetics 1993-10, Vol.2 (10), p.1727-1729
Hauptverfasser:	Chen, Z.-Y., Battinelli, E.M., Woodruff, G., Young, I., Breakfield, X.O., Craig, I.W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Base Sequence Biological and medical sciences Blindness - congenital Blindness - genetics carriers Child Behavior Disorders - genetics Dosage Compensation, Genetic Eye Proteins - genetics Female Genes Hearing Loss, Sensorineural - genetics Heterozygote Humans Infant, Newborn Male man Medical sciences Molecular Sequence Data Mutation Nerve Tissue Proteins - genetics Norrie's disease Ophthalmology Pedigree Retina - abnormalities Retinopathies X Chromosome
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