Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy
نویسندگان
چکیده
منابع مشابه
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
BACKGROUND A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. METHODOLOGY AND PRINCIPAL FINDINGS Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 w...
متن کاملMolecular and Clinical Characterization of 7 Iranian Patients with Severe Congenital Factor V Deficiency: Identification of 4 Novel Mutations
Background and Aims: Congenital factor V (FV) deficiency is a rare bleeding disorder with 1 in 1000000 persons in the general population. Individuals with FV activity <1% and very low FV antigen levels are characterized as severe FV deficient patients. Little data is available about the molecular basis of this bleeding disorder in Iran. Materials and Methods: We analyzed 7 unrelated Iranian FV...
متن کاملClinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene
Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...
متن کاملPoint Mutation Analysis of PMP22 in Patients Referred for Hereditary Neuropathy with Liability to Pressure Palsies
A cohort of 404 patients referred for hereditary neuropathy with liability to pressure palsies was tested initially for the common PMP22 whole gene deletion. 94 whole gene deletions were detected, plus three partial gene deletions, and the remaining 307 patients were screened for PMP22 point mutations. Nine point mutations were identified (8.5% of all mutations), eight of which were in exon 5, ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Scientific Reports
سال: 2017
ISSN: 2045-2322
DOI: 10.1038/s41598-017-14771-5