PMC Links for Nucleotide (Select 1677498943) - PMC

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Items: 2

Select item 57837431.

Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes

Carmen Haro, Mary Luz Uribe, Cristina Quereda, Jesús Cruces, José Martín-Nieto

Mol Vis. 2018; 24: 43–58. Published online 2018 Jan 20.

PMCID:: PMC5783743

Abstract Article PDF–27M

Select item 69782432.

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti

Mol Genet Genomic Med. 2020 Jan; 8(1): e1054. Published online 2019 Nov 22. doi: 10.1002/mgg3.1054