Royer, Ghislaine <br/><br/>
NDP gene mutations in 14 French families with Norrie disease.  [electronic resource] 

 -  Human mutation  Dec 2003 
 - 499 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.9204  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Adult<br/>Blindness--congenital<br/>Child<br/>Child, Preschool<br/>DNA--chemistry<br/>DNA Mutational Analysis<br/>Deafness--pathology<br/>Diagnosis, Differential<br/>Eye Proteins--genetics<br/>Family Health<br/>Female<br/>France<br/>Humans<br/>Infant<br/>Intellectual Disability--pathology<br/>Male<br/>Middle Aged<br/>Mutation<br/>Mutation, Missense<br/>Nerve Tissue Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Retina--pathology<br/>Sequence Deletion