Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

Research output: Contribution to journalJournal articleResearchpeer-review

Standard

Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. / Coutinho, F; da Silva Santos, L; Lacerda, L; Quental, S; Wibrand, Flemming; Lund, Allan; Johansen, K B; Prata, M J; Alves, S.

In: JIMD Reports, Vol. 4, 2012, p. 117-124.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Coutinho, F, da Silva Santos, L, Lacerda, L, Quental, S, Wibrand, F, Lund, A, Johansen, KB, Prata, MJ & Alves, S 2012, 'Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient', JIMD Reports, vol. 4, pp. 117-124. https://doi.org/10.1007/8904_2011_83

APA

Coutinho, F., da Silva Santos, L., Lacerda, L., Quental, S., Wibrand, F., Lund, A., Johansen, K. B., Prata, M. J., & Alves, S. (2012). Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. JIMD Reports, 4, 117-124. https://doi.org/10.1007/8904_2011_83

Vancouver

Coutinho F, da Silva Santos L, Lacerda L, Quental S, Wibrand F, Lund A et al. Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. JIMD Reports. 2012;4:117-124. https://doi.org/10.1007/8904_2011_83

Author

Coutinho, F ; da Silva Santos, L ; Lacerda, L ; Quental, S ; Wibrand, Flemming ; Lund, Allan ; Johansen, K B ; Prata, M J ; Alves, S. / Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient. In: JIMD Reports. 2012 ; Vol. 4. pp. 117-124.

Bibtex

@article{e24df7bce4d1466391105dedf3cce9e7,
title = "Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient",
author = "F Coutinho and {da Silva Santos}, L and L Lacerda and S Quental and Flemming Wibrand and Allan Lund and Johansen, {K B} and Prata, {M J} and S Alves",
year = "2012",
doi = "10.1007/8904_2011_83",
language = "English",
volume = "4",
pages = "117--124",
journal = "JIMD Reports",
issn = "2192-8304",
publisher = "Springer Berlin",

}

RIS

TY - JOUR

T1 - Alu-Alu Recombination Underlying the First Large Genomic Deletion in GlcNAc-Phosphotransferase Alpha/Beta (GNPTAB) Gene in a MLII Alpha/Beta Patient

AU - Coutinho, F

AU - da Silva Santos, L

AU - Lacerda, L

AU - Quental, S

AU - Wibrand, Flemming

AU - Lund, Allan

AU - Johansen, K B

AU - Prata, M J

AU - Alves, S

PY - 2012

Y1 - 2012

U2 - 10.1007/8904_2011_83

DO - 10.1007/8904_2011_83

M3 - Journal article

C2 - 23430906

VL - 4

SP - 117

EP - 124

JO - JIMD Reports

JF - JIMD Reports

SN - 2192-8304

ER -

ID: 48516585