Molecular mechanisms for CMT1A duplication and HNPP deletion.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Item
http://www.wikidata.org/entity/Q33787286
Molecular characterization and gene content of breakpoint boundaries in patients with neurofibromatosis type 1 with 17q11.2 microdeletions.First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletionThe 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.2002 Curt Stern Award Address. Genomic disorders recombination-based disease resulting from genomic architecture.The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REPStructure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.A rheostat model for a rapid and reversible form of imprinting-dependent evolutionSerial segmental duplications during primate evolution result in complex human genome architecture.Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes.Use of inverse PCR to amplify and sequence breakpoints of HPRT deletion and translocation mutations.
P2860

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Item
http://www.wikidata.org/entity/Q33787286
description
1999 nî lūn-bûn
@nan
1999 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@ast
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@en
type
label
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@ast
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@en
prefLabel
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@ast
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P478
P577
P698
P356
P1433
P1476
Molecular mechanisms for CMT1A duplication and HNPP deletion.
@en
P2093
P2860
P304
P31
P356
10.1111/J.1749-6632.1999.TB08563.X
P407
P478
P577
P698