NDP gene mutations in 14 French families with Norrie disease. [electronic resource]
Producer: 20040126Description: 499 p. digitalISSN:- 1098-1004
- Abnormalities, Multiple -- genetics
- Adolescent
- Adult
- Blindness -- congenital
- Child
- Child, Preschool
- DNA -- chemistry
- DNA Mutational Analysis
- Deafness -- pathology
- Diagnosis, Differential
- Eye Proteins -- genetics
- Family Health
- Female
- France
- Humans
- Infant
- Intellectual Disability -- pathology
- Male
- Middle Aged
- Mutation
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Pedigree
- Phenotype
- Retina -- pathology
- Sequence Deletion
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Publication Type: Journal Article
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