Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes
about
Rapid diagnostic test for the major mutation underlying Batten diseaseChromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease)Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French CanadiansSpectrum of mutations in the Batten disease gene, CLN3Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysisAnalysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.Genetics of inherited human epilepsiesAre moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish populationLysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb.
P2860
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P2860
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@ast
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@en
type
label
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@ast
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@en
prefLabel
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@ast
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@en
P2093
P2860
P1476
Batten disease gene, CLN3: lin ...... nalysis of European haplotypes
@en
P2093
A M O'Rawe
H M Mitchison
I E Järvelä
L A Sandkuijl
M H Breuning
P E Taschner
P Santavuori
R M Gardiner
P2860
P304
P407
P50
P577
1995-03-01T00:00:00Z