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

CIPOLLI, MARCO;PEROBELLI, SANDRA;NICOLIS, Elena;
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
SBDS; Shwachman-Diamond syndrome; chromosomal rearrangements; microsatellite analysis; myelodysplastic syndrome; Bone Marrow; Bone Marrow Diseases; Chromosomes, Human, Pair 7; Exocrine Pancreatic Insufficiency; Exons; Genotype; Humans; Lipomatosis; Sequence Analysis, DNA; Gene Dosage; Loss of Heterozygosity
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/945492
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