Multilocus linkage analysis in humans: detection of linkage and estimation of recombination
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Mega2: validated data-reformatting for linkage and association analysesLinkage analysis in the next-generation sequencing eraHuman Oct3 gene family: cDNA sequences, alternative splicing, gene organization, chromosomal location, and expression at low levels in adult tissuesMutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysisA new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeLinkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneityIdentification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.A novel locus for Leber congenital amaurosis maps to chromosome 6qHomozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndromeMapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardationMapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi ArabiaA new locus on chromosome 12p13.3 for pseudohypoaldosteronism type II, an autosomal dominant form of hypertensionLinkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.Renpenning syndrome maps to Xp11.Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3.Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family. The French Parkinson's Disease Genetics StudyNovel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8qA new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneityA gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3The gene for cherubism maps to chromosome 4p16.The gene for an inherited form of deafness maps to chromosome 5q31Linkage of Niemann-Pick disease type C to human chromosome 18A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locusA Hpa I polymorphism in the human laminin B1 chain gene on 7q22The human interleukin-2 receptor beta-chain gene: genomic organization, promoter analysis and chromosomal assignmentInfantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneIsolation and mapping of a polymorphic DNA sequence (pMCT108.2) on chromosome 18 [D18S24]A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth diseaseMapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathiesNeuropathy target esterase gene mutations cause motor neuron diseaseX-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysisRegional mapping of the Batten disease locus (CLN3) to human chromosome 16p12
P2860
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P2860
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination
description
1985 nî lūn-bûn
@nan
1985 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1985 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
name
Multilocus linkage analysis in ...... nd estimation of recombination
@ast
Multilocus linkage analysis in ...... nd estimation of recombination
@en
type
label
Multilocus linkage analysis in ...... nd estimation of recombination
@ast
Multilocus linkage analysis in ...... nd estimation of recombination
@en
prefLabel
Multilocus linkage analysis in ...... nd estimation of recombination
@ast
Multilocus linkage analysis in ...... nd estimation of recombination
@en
P2860
P1476
Multilocus linkage analysis in ...... nd estimation of recombination
@en
P2860
P304
P407
P577
1985-05-01T00:00:00Z