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Items: 3

1.
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis
Karen H.Y. Wong, Michal Levy‐Sakin, Walfred Ma, Nina Gonzaludo, Angel C.Y. Mak, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Zoe Grenville, Nicolas Wong, John P. Kane, Pui‐Yan Kwok, Mary J. Malloy, Clive R. Pullinger
Mol Genet Genomic Med. 2019 Dec; 7(12): e1007. Published online 2019 Oct 16. doi: 10.1002/mgg3.1007
PMCID:
PMC6900368
AbstractArticlePDF–1.3M
2.
Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western India
Arpan Bhatt, Charul Purani, Poonam Bhargava, Komal Patel, Tanvi Agarbattiwala, Apurvasinh Puvar, Krati Shah, Chaitanya G. Joshi, Nidhi Dhamecha, Mukund Prabhakar, Madhvi Joshi
Mol Genet Genomic Med. 2019 Jul; 7(7): e00692. Published online 2019 May 8. doi: 10.1002/mgg3.692
PMCID:
PMC6625100
AbstractArticlePDF–2.1M
3.
Allelic variants of the Melanocortin 4 receptor (MC4R) gene in a South African study group
Murray Logan, Maria‐Teresa Van der Merwe, Tyren M. Dodgen, Renier Myburgh, Arinda Eloff, Marco Alessandrini, Michael S. Pepper
Mol Genet Genomic Med. 2016 Jan; 4(1): 68–76. Published online 2015 Oct 23. doi: 10.1002/mgg3.180
PMCID:
PMC4707032
AbstractArticlePDF–468K

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