The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes

por Yeung, Kit San, Yu, Florrie N. Y., Fung, Cheuk Wing, Wong, Sheila, Lee, Hencher H. C., Fung, Sharon T. H., Fung, Genevieve P. G., Leung, Kwok Yin, Chung, Wai Hang, Lee, Yun Ting, Ng, Vivian K. S., Yu, Mullin H. C., Fung, Jasmine L. F., Tsang, Mandy H. Y., Chan, Kelvin Y. K., Chan, Sophelia H. S., Kan, Anita S. Y., Chung, Brian H. Y.
Publicado 2020

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population

por Tsang, Mandy H.Y., Kwong, Anna K.Y., Chan, Kate L.S., Fung, Jasmine L.F., Yu, Mullin H.C., Mak, Christopher C.Y., Yeung, Kit-San, Rodenburg, Richard J.T., Smeitink, Jan A.M., Chan, Rachel, Tsoi, Thomas, Hui, Joannie, Wong, Shelia S.N, Tai, Shuk-Mui, Chan, Victor C.M., Ma, Che-Kwan, Fung, Sharon T.H., Wu, Shun-Ping, Chak, W.K., Chung, Brian H.Y., Fung, Cheuk-Wing
Publicado 2020