Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference10 articles.
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2. Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region;Lebo;Hum Genet,1991
3. Genetic linkage and heterogeneity in type 1 Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I);Chance;Am J Hum Genet,1990
4. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a);Raeymaekers;Neuromusc Disord,1991
5. The gene for peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1a;Patel;Nature Genet,1992
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1. Mutation Analysis of MFN2, GJB1, MPZ and PMP22 in Italian Patients with Axonal Charcot–Marie–Tooth Disease;NeuroMolecular Medicine;2014-05-13
2. Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients;Clinical Genetics;2011-10-05
3. Europäische Leitlinien zur molekulargenetischen Diagnostik der Charcot-Marie-Tooth Neuropathien;Medizinische Genetik;2009-12-16
4. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families;Human Mutation;2001
5. Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients;Clinical Genetics;2000-11
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