Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

Item
http://www.wikidata.org/entity/Q24672777
Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouseThe age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Mode of action and pharmacogenomic biomarkers for exceptional responders to didemnin BBatten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypesFine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1.Are 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 populationGenetic homogeneity of autoimmune polyglandular disease type I.Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
P2860

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

Item
http://www.wikidata.org/entity/Q24672777
description
1994 nî lūn-bûn
@nan
1994 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@ast
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@en
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@nl
type
label
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@ast
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@en
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@nl
prefLabel
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@ast
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@en
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@nl
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P921
P932
P1433
P1476
Defined chromosomal assignment ...... of human ceroid lipofuscinoses
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P921
P932