Hereditary Hemorrhagic Telangiectasia

Name: Hereditary Hemorrhagic Telangiectasia
Brand: Scholars' Press
SKU: 9783639515640
Price: 194.33 PLN
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Identification of a novel deletion in ACVRL1 gene and hypothesis of its causing mechanism; updates on molecular studies

Autor: Laura Boeri, Cesare Danesino

Język:

Oprawa: Miękka

Wydawca: Scholars' Press

Dostępność: Dostępna u dostawcy

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations i...

Informacje o książce

Autor

Laura Boeri, Cesare Danesino

Język

Angielski

Oprawa

Książka - Miękka

Data wydania

2014

strony

168

EAN

9783639515640

ISBN

3639515641

Enbook ID

06889302

Wydawca

Scholars' Press

Waga

254

Wymiary

152 x 229 x 10

Pełny opis

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Mutations in either ENG or ACVRL1 account for around 85% of cases and 10% are large deletions and duplications. Here we present a large novel deletion in ACVRL1 gene and its molecular characterization in a 3 generation Italian family. We employed short tandem repeats (STRs) analysis, direct sequencing, multiplex ligation-dependent probe amplification (MLPA) analysis, and deletion-specific PCR methods. The deletion size is 4.594 bp and breakpoints in exon 3 and intron 8 show the presence of short direct repeats of 7 bp. We hypothesize, as causative molecular mechanism, the replication slippage model. Understanding the fine mechanisms associated with genomic rearrangements may indicate the nonrandomness of these events, highlighting hot spots regions. In this work we present also other studies related to molecular aspects of this disease. The analysis could help scientists to understand from the disease how molecular biology works to the exact genetic defect.

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Hereditary Hemorrhagic Telangiectasia

Identification of a novel deletion in ACVRL1 gene and hypothesis of its causing mechanism; updates on molecular studies

Informacje o książce

Pełny opis

Możesz być zainteresowany

Klienci, którzy kupili tę książkę, kupili również