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

F Coutinho; L da Silva Santos; L Lacerda; S Quental; Flemming Wibrand; Allan Lund; K B Johansen; M J Prata; S Alves

doi:10.1007/8904_2011_83

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

F Coutinho, L da Silva Santos, L Lacerda, S Quental, Flemming Wibrand, Allan Lund, K B Johansen, M J Prata, S Alves

8 Citations (Scopus)

Original language	English
Journal	JIMD Reports
Volume	4
Pages (from-to)	117-124
Number of pages	8
DOIs	https://doi.org/10.1007/8904_2011_83
Publication status	Published - 2012

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10.1007/8904_2011_83

Cite this

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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 = "2192-8312",

publisher = "Springer Berlin",

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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

SN - 2192-8312

VL - 4

SP - 117

EP - 124

JO - JIMD Reports

JF - JIMD Reports

ER -