Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Autor: Puffenberger EG; Clinic for Special Children, Strasburg, Pennsylvania, United States of America. epuffenberger@clinicforspecialchildren.org, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA

Publikováno v: PloS one [PLoS One] 2012; Vol. 7 (1), pp. e28936. Date of Electronic Publication: 2012 Jan 17.