T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
about
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.Computational Analysis Reveals the Association of Threonine 118 Methionine Mutation in PMP22 Resulting in CMT-1ASNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseThe PMP22 gene and its related diseases.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar AtrophyGenomic medicine and neurological disease.Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variabilityExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyCoexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion.Clan genomics and the complex architecture of human disease.Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathyNeuropathy in a human without the PMP22 gene.Phenotypic presentation of the Ser63Del MPZ mutationA Family Harboring CMT1A Duplication and HNPP Deletion.Diagnosis of Charcot-Marie-Tooth disease.Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene.Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene.Genetic epidemiology of Charcot-Marie-Tooth disease.
P2860
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P2860
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
description
2006 nî lūn-bûn
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2006年の論文
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
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2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
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2006年學術文章
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name
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@en
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@nl
type
label
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@en
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@nl
prefLabel
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@en
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@nl
P2093
P356
P1433
P1476
T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.
@en
P2093
Alisa Clark
Edwin Kolodny
Gulam Mustafa Saifi
James R Lupski
John Kamholz
Karen M Krajewski
Kinga Szigeti
Mena T Scavina
Michael E Shy
P304
P356
10.1002/ANA.20777
P577
2006-02-01T00:00:00Z