Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

Author:

Luukkonen Tiia Maria12ORCID,Mehrjouy Mana M.3,Pöyhönen Minna45,Anttonen Anna-Kaisa6,Lahermo Päivi1,Ellonen Pekka1,Paulin Lars7,Tommerup Niels3,Palotie Aarno18,Varilo Teppo25

Affiliation:

1. Institute for molecular medicine Finland FIMM; University of Helsinki; Helsinki Finland

2. Department of Health; National Institute for Health and Welfare; Helsinki Finland

3. Wilhelm Johannsen Centre for Functional Genome Research; Department of Cellular and Molecular Medicine; University of Copenhagen; Copenhagen Denmark

4. Clinical Genetics; Helsinki University Hospital; University of Helsinki; Helsinki Finland

5. Department of Medical Genetics; University of Helsinki; Helsinki Finland

6. Laboratory of Genetics; HUSLAB; Helsinki Finland

7. Institute of Biotechnology; University of Helsinki; Helsinki Finland

8. Broad Institute of Harvard and MIT; Cambridge MA USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

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3. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways;Benson;Journal of Clinical Investigation,1999

4. A fast and accurate method for detection of IBD shared haplotypes in genome-wide SNP data;Bjelland;European Journal of Human Genetics,2017

5. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1;Browne;Nature Genetics,1994

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