Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
about
The detection of large deletions or duplications in genomic DNA.Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT CollaborativeNon-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patientsHigh frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients.Diagnosis of the CMT1A duplication by PCR based detection of a novel junction fragment.Ultrastructural Immunocytochemical Abnormalities of Peripheral Myelin Proteins in Hereditary Sensory-Motor Neuropathies: 12 cases.
P2860
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P2860
Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.
description
1992 nî lūn-bûn
@nan
1992 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Duplication within chromosome ...... The French CMT Research Group.
@ast
Duplication within chromosome ...... The French CMT Research Group.
@en
type
label
Duplication within chromosome ...... The French CMT Research Group.
@ast
Duplication within chromosome ...... The French CMT Research Group.
@en
prefLabel
Duplication within chromosome ...... The French CMT Research Group.
@ast
Duplication within chromosome ...... The French CMT Research Group.
@en
P2093
P2860
P356
P1476
Duplication within chromosome ...... The French CMT Research Group.
@en
P2093
P2860
P304
P356
10.1136/JMG.29.11.807
P407
P50
P577
1992-11-01T00:00:00Z