Winnepenninckx, Birgitta <br/><br/>
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?  [electronic resource] 

 -  Human mutation  Oct 2002 
 - 249-52 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1098-1004 
<br/><br/><label>Standard No.: </label>10.1002/humu.10130  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alanine--genetics<br/>Amino Acid Substitution--genetics<br/>Child, Preschool<br/>Chromosomal Proteins, Non-Histone<br/>Chromosomes, Human, X--genetics<br/>CpG Islands--genetics<br/>DNA-Binding Proteins--genetics<br/>Female<br/>Genetic Carrier Screening<br/>Genetic Testing--trends<br/>Haplotypes--genetics<br/>Humans<br/>Infant<br/>Intellectual Disability--genetics<br/>Male<br/>Methyl-CpG-Binding Protein 2<br/>Mutation--genetics<br/>Pedigree<br/>Repressor Proteins--genetics<br/>Rett Syndrome--genetics<br/>Valine--genetics