A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

Li, L., Hamel, N., Baker, K., McGuffin, Michael John, Couillard, M., Gologan, A., Marcus, V. A., Chodirker, B., Chudley, A., Stefanovici, C., Durandy, A., Hegele, R. A., Feng, B. J., Goldgar, D. E., Zhu, J., Rosa, M. D., Gruber, S. B., Wimmer, K., Young, B., Chong, G., Tischkowitz, M. D. and Foulkes, W. D.. 2015. « A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype ». Journal of Medical Genetics, vol. 52, nº 5. pp. 348-352.
Compte des citations dans Scopus : 33.

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Item Type:	Peer reviewed article published in a journal
Professor:	Professor McGuffin, Michael John
Affiliation:	Génie logiciel et des technologies de l'information
Date Deposited:	16 Jul 2015 21:06
Last Modified:	15 Jan 2016 16:01
URI:	https://espace2.etsmtl.ca/id/eprint/9985

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