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

Collaboration from previous work institution.

Detalhes bibliográficos
Autor principal: Labrijn-Marks, Ineke (author)
Outros Autores: 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)
Formato: article
Idioma:eng
Publicado em: 2020
Assuntos:
Lysiosomal Diseases
Human Genetics
Genetic Diagnosis
Uniparental Disomy
Doenças Genéticas
Genética Humana
Texto completo:http://hdl.handle.net/10400.18/6554
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6554

Texto Completo

http://hdl.handle.net/10400.18/6554

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