Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Collaboration from previous work institution.

Bibliographic Details
Main Author: Labrijn-Marks, Ineke (author)
Other Authors: Somers-Bolman, Galhana M. (author), In ’t Groen, Stijn L. M. (author), Hoogeveen-Westerveld, Marianne (author), Kroos, Marian A. (author), Ala-Mello, Sirpa (author), Amaral, Olga (author), Miranda, Clara sa (author), Mavridou, Irene (author), Michelakakis, Helen (author), Naess, Karin (author), Verheijen, Frans W. (author), Hoefsloot, Lies H. (author), Dijkhuizen, Trijnie (author), Benjamins, Marloes (author), van den Hout, Hannerieke J.M. (author), van der Ploeg, Ans T. (author), Pijnappel, W. W. M. Pim (author), Saris, Jasper J. (author), Halley, Dicky J. (author)
Format: article
Language:eng
Published: 2020
Subjects:
Lysiosomal Diseases
Human Genetics
Genetic Diagnosis
Uniparental Disomy
Doenças Genéticas
Genética Humana
Online Access:http://hdl.handle.net/10400.18/6554
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6554
Description
Summary:Collaboration from previous work institution.

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