TY  - GEN
AU  - Kwon,Min-Jung
AU  - Boo,Sung Hyun
AU  - Kim,Hee-Jin
AU  - Cho,Yang-Sun
AU  - Chung,Won-Ho
AU  - Hong,Sung Hwa
TI  - A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome
SN  - 1651-2251
PY  - 2009///0715
KW  - Adolescent
KW  - Adult
KW  - Asian People
KW  - genetics
KW  - Branchio-Oto-Renal Syndrome
KW  - diagnosis
KW  - Child
KW  - Female
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Korea
KW  - Male
KW  - Mutation
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Protein Tyrosine Phosphatases
KW  - RNA Splice Sites
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1080/00016480802342432
ER  -