Five novel genetic variants in the promoter and coding region of the alpha B-crystallin gene (CRYAB): -652G>A, -650C>G, -249G>C, S41Y, P51L.
Hahner
A
A
Department of Internal Medicine and Cardiology, Charité, CVK, Humboldt University Berlin and Deutsches Herzzentrum Berlin, Germany.
Erdmann
J
J
Kallisch
H
H
Fleck
E
E
Regitz-Zagrosek
V
V
D019943:Amino Acid Substitution / Q000235:genetics*; D003459:Crystallins / Q000235:genetics*; D005091:Exons; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D007930:Leucine / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011392:Proline / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012694:Serine / Q000235:genetics; D014443:Tyrosine / Q000235:genetics
D003459:Crystallins; D014443:Tyrosine; D012694:Serine; D011392:Proline; D007930:Leucine