Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
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Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesThe human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2Homologous Recombination and Its Role in CarcinogenesisManagement of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachInheritance of CMT1A duplication from a mosaic father.Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descentCryptogenic sensory polyneuropathy.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.The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross.Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patientsExonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DComparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A.Chromosomal duplications in bacteria, fruit flies, and humansMutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patientsPMP22 expression in dermal nerve myelin from patients with CMT1A.CMT1A duplication analysis in the diagnostic evaluation of patients with peripheral neuropathy.Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.Reply to Boylan.
P2860
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P2860
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
description
1993 nî lūn-bûn
@nan
1993 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@ast
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@en
type
label
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@ast
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@en
prefLabel
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@ast
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@en
P2093
P2860
P1476
Molecular analyses of unrelate ...... ency of the CMTIA duplication.
@en
P2093
P2860
P304
P407
P577
1993-10-01T00:00:00Z