Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
about
Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosisAtypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency.The genetic spectrum of human neuronal ceroid-lipofuscinoses.Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America.Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
P2860
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@ast
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@en
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@nl
type
label
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@ast
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@en
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@nl
prefLabel
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@ast
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@en
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@nl
P2093
P356
P1476
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
@en
P2093
D Moroziewicz
J R Currie
P356
10.1136/JMG.39.11.822
P407
P577
2002-11-01T00:00:00Z