Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
about
Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacyHaploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndromeSmith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.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.Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybridsMolecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.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.Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patientsCharcot-Marie-Tooth disease type 1Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Three polymorphisms at the D17S29 locus.Two MspI RFLPs at the D17S258 locus.
P2860
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P2860
Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17.
description
1990 nî lūn-bûn
@nan
1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@ast
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@en
type
label
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@ast
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@en
prefLabel
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@ast
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@en
P2093
P2860
P1476
Genetic mapping of autosomal d ...... nked markers on chromosome 17.
@en
P2093
A Chakravarti
D H Ledbetter
J R Lupski
S A Slaugenhaupt
Y Nakamura
P2860
P304
P407
P577
1990-04-01T00:00:00Z