Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent
about
Structural variation mutagenesis of the human genome: Impact on disease and evolution.Charcot-Marie-Tooth disease: lessons in genetic mechanisms.Overview of hereditary neuropathy with liability to pressure palsies.Molecular mechanisms for CMT1A duplication and HNPP deletion.Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patientsMechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.A comparison of methods for gene dosage analysis in HMSN type 1.The coalescent with selection on copy number variantsGenomic disorders ten years on.Mutational analysis of Greek patients with suspected hereditary neuropathy with liability to pressure palsies (HNPP): a 15-year experience.Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion
P2860
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P2860
Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Detection of the CMT1A/HNPP re ...... d patients of European descent
@ast
Detection of the CMT1A/HNPP re ...... d patients of European descent
@en
type
label
Detection of the CMT1A/HNPP re ...... d patients of European descent
@ast
Detection of the CMT1A/HNPP re ...... d patients of European descent
@en
prefLabel
Detection of the CMT1A/HNPP re ...... d patients of European descent
@ast
Detection of the CMT1A/HNPP re ...... d patients of European descent
@en
P2093
P2860
P356
P1476
Detection of the CMT1A/HNPP re ...... d patients of European descent
@en
P2093
De Jonghe P
Rautenstrauss B
P2860
P356
10.1136/JMG.34.1.43
P407
P577
1997-01-01T00:00:00Z