Thauvin-Robinet, Christel <br/><br/>
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.  [electronic resource] 

 -  Journal of medical genetics  Apr 2013 
 - 220-7 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1468-6244 
<br/><br/><label>Standard No.: </label>10.1136/jmedgenet-2012-101427  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child<br/>Child, Preschool<br/>Cystic Fibrosis--complications<br/>Cystic Fibrosis Transmembrane Conductance Regulator--genetics<br/>Female<br/>Heterozygote<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Infertility, Male--complications<br/>Male<br/>Male Urogenital Diseases--complications<br/>Mutation<br/>Mutation Rate<br/>Phenotype<br/>Prenatal Diagnosis<br/>Sweat--chemistry<br/>Vas Deferens--abnormalities