about
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansMega2: validated data-reformatting for linkage and association analysesScreening of functional and positional candidate genes in families with common variable immunodeficiencyConnexin46 mutations in autosomal dominant congenital cataract.Linkage analysis in the next-generation sequencing eraA novel nemaline myopathy in the Amish caused by a mutation in troponin T1Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate geneCell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21qFrom flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplexTruncated erythropoietin receptor causes dominantly inherited benign human erythrocytosisExome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyA missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1qMapping of human microtubule-associated protein 1B in proximity to the spinal muscular atrophy locus at 5q13Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceG protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growthMutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancerIdentification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1A gain-of-function mutation in TRPA1 causes familial episodic pain syndromeCHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qHomozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathyThe mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7pEvidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysisA gene for familial venous malformations maps to chromosome 9p in a second large kindred.Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeA variant in the HS1-BP3 gene is associated with familial essential tremorMutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North AmericaA genomewide screen of 345 families for autism-susceptibility loci.Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3.A novel locus for Leber congenital amaurosis maps to chromosome 6qA gene for an autosomal dominant scleroatrophic syndrome predisposing to skin cancer (Huriez syndrome) maps to chromosome 4q23Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilisDFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers
P2860
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P2860
description
1984 nî lūn-bûn
@nan
1984 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1984 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
name
Strategies for multilocus linkage analysis in humans
@ast
Strategies for multilocus linkage analysis in humans
@en
Strategies for multilocus linkage analysis in humans
@nl
type
label
Strategies for multilocus linkage analysis in humans
@ast
Strategies for multilocus linkage analysis in humans
@en
Strategies for multilocus linkage analysis in humans
@nl
prefLabel
Strategies for multilocus linkage analysis in humans
@ast
Strategies for multilocus linkage analysis in humans
@en
Strategies for multilocus linkage analysis in humans
@nl
P2860
P356
P1476
Strategies for multilocus linkage analysis in humans
@en
P2860
P304
P356
10.1073/PNAS.81.11.3443
P407
P577
1984-06-01T00:00:00Z