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 Collaborative
about
Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1AAtypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.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.Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.Rapid genetic screening of Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patientsHuman meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patientsUnequal meiotic crossover: a frequent cause of NF1 microdeletions.Mutational mechanisms of Williams-Beuren syndrome deletions.The M26 hotspot of Schizosaccharomyces pombe stimulates meiotic ectopic recombination and chromosomal rearrangements.Prevalence and parental origin of de novo 1.5-Mb duplication in Charcot-Marie-Tooth disease type 1A.
P2860
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P2860
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 Collaborative
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Recombination hot spot in a 3. ...... e 1A. French CMT Collaborative
@ast
Recombination hot spot in a 3. ...... e 1A. French CMT Collaborative
@en
type
label
Recombination hot spot in a 3. ...... e 1A. French CMT Collaborative
@ast
Recombination hot spot in a 3. ...... e 1A. French CMT Collaborative
@en
prefLabel
Recombination hot spot in a 3. ...... e 1A. French CMT Collaborative
@ast
Recombination hot spot in a 3. ...... e 1A. French CMT Collaborative
@en
P2093
P2860
P1476
Recombination hot spot in a 3. ...... T Collaborative Research Group
@en
P2093
Gugenheim M
P2860
P304
P407
P50
P577
1996-06-01T00:00:00Z