Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Monica Yasmin Nino Martinez"'
Autor:
Esther Kuperus, Jan C van der Meijden, Stijn L M In 't Groen, Marian A Kroos, Marianne Hoogeveen-Westerveld, Dimitris Rizopoulos, Monica Yasmin Nino Martinez, Michelle E Kruijshaar, Pieter A van Doorn, Nadine A M E van der Beek, Ans T van der Ploeg, W W M Pim Pijnappel
Publikováno v:
PLoS ONE, Vol 13, Iss 12, p e0208854 (2018)
The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in combination with a fully deleterious GAA variant on the second allele. The phenotypic spectrum of
Externí odkaz:
https://doaj.org/article/16edc4285a074ac2a8cd57cda3d8cf22
Autor:
Stijn L. M. in ‘t Groen, Dimitris Rizopoulos, W.W.M. Pim Pijnappel, Michelle E. Kruijshaar, Jan C. van der Meijden, Nadine A. M. E. van der Beek, Marianne Hoogeveen-Westerveld, Monica Yasmin Nino Martinez, Ans T. van der Ploeg, Esther Kuperus, Marian A. Kroos, Pieter A. van Doorn
Publikováno v:
PLoS One (online), 13(12):e0208854. Public Library of Science
PLoS ONE, Vol 13, Iss 12, p e0208854 (2018)
PLoS ONE
PLoS ONE, Vol 13, Iss 12, p e0208854 (2018)
PLoS ONE
The majority of children and adults with Pompe disease in the population of European descent carry the leaky splicing GAA variant c.-32-13T>G (IVS1) in combination with a fully deleterious GAA variant on the second allele. The phenotypic spectrum of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d128e29f5ab325e61a3bcaf40b84e0
https://pure.eur.nl/en/publications/d4044461-74d4-4b99-946c-c42f13e551ea
https://pure.eur.nl/en/publications/d4044461-74d4-4b99-946c-c42f13e551ea
