de Paula, Flavia <br/><br/>
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum.  [electronic resource] 

 -  European journal of human genetics : EJHG  Dec 2003 
 - 923-30 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5201066  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Chromosomes, Human, Pair 19<br/>DNA Primers<br/>Female<br/>Genetic Carrier Screening<br/>Homozygote<br/>Humans<br/>Male<br/>Mutation<br/>Pedigree<br/>Pentosyltransferases<br/>Proteins--genetics