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5.
Appl Theor Electrophor ; 2(1): 3-5, 1991.
Article in English | MEDLINE | ID: mdl-1932207

ABSTRACT

Norrie disease is an X-linked recessive disorder characterized by congenital blindness and, in many cases, mental retardation. Some Norrie disease cases have been shown to be associated with a submicroscopic deletion in chromosomal region Xp11.3. Cerebrospinal fluid (CSF) was collected from four male patients with an X-chromosomal deletion associated with Norrie disease. CSF proteins were resolved using two-dimensional gel electrophoresis and then analyzed by computer using the Elsie V program. Our analysis revealed a protein that appears to be altered in patients with Norrie disease deletion.


Subject(s)
Blindness/cerebrospinal fluid , Cerebrospinal Fluid Proteins/isolation & purification , Chromosome Deletion , X Chromosome , Blindness/congenital , Blindness/genetics , Cerebrospinal Fluid Proteins/genetics , Electrophoresis, Gel, Two-Dimensional , Humans , Intellectual Disability/cerebrospinal fluid , Intellectual Disability/genetics , Male , Monoamine Oxidase/deficiency
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