We report that acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 was not identified in a series of 10 patients with Shwachman–Diamond syndrome (SDS).

Absence of acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 in a series of 10 patients with Shwachman-Diamond syndrome.

NACCI, LUCIA;DANESINO, CESARE;MORINI, JACOPO;MINELLI, ANTONELLA
2014-01-01

Abstract

We report that acquired copy number neutral loss of heterozygosity (CN-LOH) of chromosome 7 was not identified in a series of 10 patients with Shwachman–Diamond syndrome (SDS).
2014
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
Esperti non anonimi
Inglese
Internazionale
STAMPA
feb 1
1
3
3
SBDS; chromosomal rearrangements; microsatellite analysis; Shwachman-Diamond syndrome; myelodysplastic syndrome
no
13
info:eu-repo/semantics/article
262
Nacci, Lucia; Danesino, Cesare; Sainati, Laura; Longoni, Daniela; Poli, Furio; Cipolli, Marco; Perobelli, Sandra; Nicolis, Elena; Cannioto, Zemira; Mo...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/849075
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