BASIC RESEARCHBIALLELIC BUB1 MUTATIONS CAUSE MICROCEPHALY, DEVELOPMENTAL DELAY AND VARIABLE EFFECTS ON COHESION AND CHROMOSOME SEGREGATION

被引：0

作者：

Carvalhal, Sara ^{[1
,2
,3
]}

Bader, Ingrid ^{[4
]}

Rooimans, Martin A. ^{[5
]}

Oostra, Anneke B. ^{[5
]}

Balk, Jesper A. ^{[5
]}

Feichtinger, Rene G. ^{[6
]}

Beichler, Christine ^{[7
]}

Speicher, Michael R. ^{[7
]}

van Hagen, Johanna M. ^{[8
]}

Waisfisz, Quinten ^{[8
]}

van Haelst, Mieke ^{[8
]}

Bruijn, Martijn ^{[9
]}

Mayr, Johannes A. ^{[6
]}

Wolthuis, Rob M. F. ^{[5
]}

Oliveira, Raquel A. ^{[1
]}

de Lange, Job ^{[5
]}

机构：

[1] Inst Gulbenkian Ciencias, R Q ta Grande 6, P-2780156 Oeiras, Portugal

[2] Univ Algarve, Algarve Biomed Ctr Res Inst, P-8005139 Faro, Portugal

[3] Univ Algarve, Ctr Biomed Res, P-8005139 Faro, Portugal

[4] Paracelsus Med Univ, Clin Genet Unit, Salzburg, Austria

[5] Univ Amsterdam, Oncogenet Sect, Canc Ctr Amsterdam, Med Ctr, Boelelaan 1118, NL-1081 HV Amsterdam, Netherlands

[6] Paracelsus Med Univ, Univ Hosp Salzburg, Dept Pediat, Salzburg, Austria

[7] Med Univ Graz, Inst Human Genet, Diagnost & Res Ctr Mol BioMed, Graz, Austria

[8] Vrije Univ Amsterdam, Dept Clin Genet, Amsterdam UMC, Boelelaan 1118, NL-1081 HV Amsterdam, Netherlands

[9] Northwest Clin, Wilhelminalaan 12, NL-1815 JD Alkmaar, Netherlands

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中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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页数：1

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