Usefulness of MLPA in the detection of SHOX deletions

Usefulness of MLPA in the detection of SHOX deletions

Item
http://www.wikidata.org/entity/Q57632490
SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short StatureUse of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.A Track Record on SHOX: From Basic Research to Complex Models and TherapyInvestigation of SHOX Gene Mutations in Turkish Patients with Idiopathic Short Stature.SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature.Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
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Usefulness of MLPA in the detection of SHOX deletions

Item
http://www.wikidata.org/entity/Q57632490
description
scientific article published on 09 June 2010
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wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2010
@uk
name
Usefulness of MLPA in the detection of SHOX deletions
@en
Usefulness of MLPA in the detection of SHOX deletions
@nl
type
label
Usefulness of MLPA in the detection of SHOX deletions
@en
Usefulness of MLPA in the detection of SHOX deletions
@nl
prefLabel
Usefulness of MLPA in the detection of SHOX deletions
@en
Usefulness of MLPA in the detection of SHOX deletions
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Usefulness of MLPA in the detection of SHOX deletions
@en
P2093
P304
P31
P356
10.1016/J.EJMG.2010.06.001
P433
P478
P50
P577
P698