Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7

M.L. Cardoso; A. Balreira; E. Martins; L. Nunes; A. Cabral; M. Marques; M.R. Lima; J.S. Marques; A. Medeira; I. Cordeiro; S. Pedro; M.C. Mota

doi:10.1016/j.ymgme.2005.02.009

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7

M.L. Cardoso, A. Balreira, E. Martins, L. Nunes, A. Cabral, M. Marques, M.R. Lima, J.S. Marques, A. Medeira, I. Cordeiro, S. Pedro, M.C. Mota

Amsterdam UMC

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

Original language	English
Pages (from-to)	228-235
Journal	Molecular genetics and metabolism
Volume	85
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2005.02.009
Publication status	Published - 2005

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10.1016/j.ymgme.2005.02.009

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Cardoso, M. L., Balreira, A., Martins, E., Nunes, L., Cabral, A., Marques, M., Lima, M. R., Marques, J. S., Medeira, A., Cordeiro, I., Pedro, S., & Mota, M. C. (2005). Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7. Molecular genetics and metabolism, 85(3), 228-235. https://doi.org/10.1016/j.ymgme.2005.02.009

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title = "Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7",

author = "M.L. Cardoso and A. Balreira and E. Martins and L. Nunes and A. Cabral and M. Marques and M.R. Lima and J.S. Marques and A. Medeira and I. Cordeiro and S. Pedro and M.C. Mota",

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Cardoso, ML, Balreira, A, Martins, E, Nunes, L, Cabral, A, Marques, M, Lima, MR, Marques, JS, Medeira, A, Cordeiro, I, Pedro, S & Mota, MC 2005, 'Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7', Molecular genetics and metabolism, vol. 85, no. 3, pp. 228-235. https://doi.org/10.1016/j.ymgme.2005.02.009

TY - JOUR

T1 - Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7

AU - Cardoso, M.L.

AU - Balreira, A.

AU - Martins, E.

AU - Nunes, L.

AU - Cabral, A.

AU - Marques, M.

AU - Lima, M.R.

AU - Marques, J.S.

AU - Medeira, A.

AU - Cordeiro, I.

AU - Pedro, S.

AU - Mota, M.C.

PY - 2005

Y1 - 2005

U2 - 10.1016/j.ymgme.2005.02.009

DO - 10.1016/j.ymgme.2005.02.009

M3 - Article

SN - 1096-7192

VL - 85

SP - 228

EP - 235

JO - Molecular genetics and metabolism

JF - Molecular genetics and metabolism

IS - 3

ER -