Peissel, B <br/><br/>
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.  [electronic resource] 

 -  Human mutation  1994 
 - 386-90 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1059-7794 
<br/><br/><label>Standard No.: </label>10.1002/humu.1380030410  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adenine Nucleotides--genetics<br/>Adult<br/>Amino Acid Sequence<br/>Base Sequence<br/>Child<br/>Collagen--genetics<br/>DNA Mutational Analysis<br/>DNA Primers<br/>DNA, Single-Stranded--analysis<br/>Female<br/>Frameshift Mutation<br/>Humans<br/>Male<br/>Molecular Sequence Data<br/>Nephritis, Hereditary--genetics<br/>Nucleic Acid Conformation<br/>Nucleic Acid Heteroduplexes<br/>Pedigree<br/>Polymorphism, Genetic