β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA

Blomqvist M, Smeland MF, Lindgren J, Sikora P, Riise Stensland HMF, Asin-Cayuela J

Cold Spring Harb Mol Case Stud 5 (3) a003954 [2019-06-00; online 2019-03-18]

Clinical Genomics Gothenburg [Collaborative]

Clinical Genomics Stockholm [Service]

QC bibliography QC xrefs

DOI 10.1101/mcs.a003954

Crossref 10.1101/mcs.a003954