TY  - JOUR

T1  - Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient

JO  - American Journal of Medical Genetics Part A

UR  - https://eprints.whiterose.ac.uk/id/eprint/133114

UR  - https://doi.org/10.1002/ajmg.a.38656

PY  - 2018/04/21

AU  - Willoughby J

AU  - Duff-Farrier C

AU  - Desurkar A

AU  - Kurian M

AU  - Raghavan A

AU  - DDD Study

AU  - Balasubramanian M

ED  - 

DO  - DOI: 10.1002/ajmg.a.38656

PB  - Wiley

VL  - 176

IS  - 5

SP  - 1049

EP  - 1054

Y2  - 2025/11/06

ER  -