A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease
about
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipidPelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosisMolecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher diseaseLinkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindredComplete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.Hereditary Lewy-body parkinsonism and evidence for a genetic etiology of Parkinson's disease.Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. PMD Clinical GroupThe structure and function of central nervous system myelin.
P2860
Q24563063-DD7469C0-C832-45D9-80CC-CFAA6E3C000DQ24669755-0ADEBD7D-152A-49A0-9AB9-EA8FF7F10EA4Q24679670-E781784A-9C26-4083-95C6-BB71275A230AQ35194749-B4F54EA5-DF9B-4DF1-A6FB-DBD837162CA4Q35204565-C980705C-FDF5-49FC-BBAC-80CBA3816CE9Q35243883-53C09D40-8C9E-46D5-B773-C8B34C65B308Q35889741-D442DC07-17CE-47B5-9DA7-65ECED68F298Q40486765-A320814B-15D5-459C-A430-E7A84E97F2B0
P2860
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@ast
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@en
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@nl
type
label
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@ast
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@en
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@nl
prefLabel
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@ast
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@en
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@nl
P2093
P356
P1476
A new mutation in the proteoli ...... h Pelizaeus-Merzbacher disease
@en
P2093
A Schinzel
J A Trofatter
P M Conneally
S R Dlouhy
P356
10.1002/AJMG.1320380129
P407
P577
1991-01-01T00:00:00Z