Rapid diagnostic test for the major mutation underlying Batten disease
about
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten diseaseRapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR.[18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis.Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease.Neuropsychological test battery in the follow-up of patients with juvenile neuronal ceroid lipofuscinosis.Juvenile neuronal ceroid-lipofuscinosis: clinical and molecular investigation in a large family in Brazil.
P2860
Q24291928-F59B4A3A-C5C0-418A-A66B-D32A96BEE0BAQ24310339-7A381FEF-08CF-4330-B30C-F40E9BA6FFB4Q33679791-C383A569-2DBD-44D0-910E-C39A8B9DB71BQ33735875-23DDBCF8-24FA-4518-A453-4D243244C350Q34137740-B416C920-481D-41A7-B903-BDBB62FE5766Q35790328-07815442-992B-4559-A586-74683357DBCCQ49043230-2FE03B5B-2C53-42C0-B9DF-1B3424C37C33Q50312496-A1A91FD1-0C35-4972-A227-36DCEA02DC32
P2860
Rapid diagnostic test for the major mutation underlying Batten disease
description
1996 nî lūn-bûn
@nan
1996 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
Rapid diagnostic test for the major mutation underlying Batten disease
@ast
Rapid diagnostic test for the major mutation underlying Batten disease
@en
Rapid diagnostic test for the major mutation underlying Batten disease
@en-gb
Rapid diagnostic test for the major mutation underlying Batten disease
@nl
type
label
Rapid diagnostic test for the major mutation underlying Batten disease
@ast
Rapid diagnostic test for the major mutation underlying Batten disease
@en
Rapid diagnostic test for the major mutation underlying Batten disease
@en-gb
Rapid diagnostic test for the major mutation underlying Batten disease
@nl
prefLabel
Rapid diagnostic test for the major mutation underlying Batten disease
@ast
Rapid diagnostic test for the major mutation underlying Batten disease
@en
Rapid diagnostic test for the major mutation underlying Batten disease
@en-gb
Rapid diagnostic test for the major mutation underlying Batten disease
@nl
P2093
P2860
P356
P1476
Rapid diagnostic test for the major mutation underlying Batten disease
@en
P2093
A C Syvänen
A M O'Rawe
H M Mitchison
P B Munroe
P2860
P304
P356
10.1136/JMG.33.12.1041
P407
P577
1996-12-01T00:00:00Z