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pro vyhledávání: '"Phalin‐Roque, J."'
Autor:
van de Kamp, JM, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, SJM, Verheijen - Mancini, Grazia, Steinberg, SJ, Salomons, GS
Publikováno v:
van de Kamp, J M, Errami, A, Howidi, M, Anselm, I, Winter, S, Phalin-Roque, J, Osaka, H, van Dooren, S J M, Mancini, G M, Steinberg, S J & Salomons, G 2015, ' Genotype-phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1 ', Clinical Genetics, vol. 87, no. 2, pp. 141-147 . https://doi.org/10.1111/cge.12355
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell
Clinical Genetics, 87(2), 141-147. Wiley-Blackwell Publishing Ltd
The BCAP31 gene is located between SLC6A8, associated with X-linked creatine transporter deficiency, and ABCD1, associated with X-linked adrenoleukodystrophy. Recently, loss-of-function mutations in BCAP31 were reported in association with severe dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29348b5c9c09ff5fa8ca8500f7f5269b
https://research.vumc.nl/en/publications/ff56d44d-ccf0-4861-b771-c8e87832c282
https://research.vumc.nl/en/publications/ff56d44d-ccf0-4861-b771-c8e87832c282
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Autor:
van de Kamp JM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Errami A, Howidi M, Anselm I, Winter S, Phalin-Roque J, Osaka H, van Dooren SJ, Mancini GM, Steinberg SJ, Salomons GS
Publikováno v:
Clinical genetics [Clin Genet] 2015 Feb; Vol. 87 (2), pp. 141-7. Date of Electronic Publication: 2014 Mar 06.