Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

Item
http://www.wikidata.org/entity/Q36508553
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisVariable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.Clinical and genetic characterization of leukoencephalopathies in adults.Using temporal genetic switches to synchronize the unfolded protein response in cell populations in vivo.Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes.Integrative proteomics, genomics, and translational immunology approaches reveal mutated forms of Proteolipid Protein 1 (PLP1) and mutant-specific immune response in multiple sclerosis.Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
P2860

Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

Item
http://www.wikidata.org/entity/Q36508553
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@ast
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@en
type
label
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@ast
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@en
prefLabel
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@ast
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P5875
P6179
P698
P356
P1433
P1476
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
@en
P2093
P2860
P2888
P304
P31
P356
10.1097/01.GIM.0000223551.95862.C3
P407
P433
P478
P577
P5875
P6179
P698