Familial dysautonomia: Detection of the IKBKAP IVS20+6T → C and R696P mutations and frequencies among Ashkenazi Jews

Jianli Dong, Lisa Edelmann, Asghar M. Bajwa, Ruth Kornreich, Robert J. Desnick

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Fingerprint Dive into the research topics of 'Familial dysautonomia: Detection of the IKBKAP IVS20<sup>+6T → C</sup> and R696P mutations and frequencies among Ashkenazi Jews'. Together they form a unique fingerprint.

Medicine & Life Sciences