Three Novel Α-L-Iduronidase Mutations in 10 Unrelated Chinese Mucopolysaccharidosis Type I Families

Genetics and Molecular Biology - Brazil
doi 10.1590/s1415-47572011005000006
Full Text
Abstract

Available in full text

Date
Authors
Publisher

FapUNIFESP (SciELO)

Related search

Comment on “Report of 5 Novel Mutations of the Α-L-Iduronidase Gene and Comparison of Korean Mutations in Relation With Those of Japan or China in Patients With Mucopolysaccharidosis I”

BMC Medical Genetics
Genetics
2018English

Co-Expression of MGMTP140K and Α-L-Iduronidase in Primary Hepatocytes From Mucopolysaccharidosis Type I Mice Enables Efficient Selection With Metabolic Correction

Journal of Gene Medicine
Molecular MedicineDrug DiscoveryGeneticsMolecular Biology
2008English

Α-L-Iduronidase (IDUA)

Science-Business eXchange
2014English

Long-Term Restoration of Alpha-L-Iduronidase Activity in Fibroblasts From Patients With Mucopolysaccharidosis Type I After Non-Viral Gene Transfer

Clinical & Biomedical Research
2017English

Novel Β-Crystallin Gene Mutations in Chinese Families With Nuclear Cataracts

Archives of Ophthalmology
2011English

Novel Mutations in CRYGC Are Associated With Congenital Cataracts in Chinese Families

Scientific Reports
Multidisciplinary
2017English

Novel Phenotypes of NF1 Patients From Unrelated Chinese Families With Tibial Pseudarthrosis and Anemia

Oncotarget
Oncology
2016English

Diversity of Mutations and Distribution of Single Nucleotide Polymorphic Alleles in the Human Α-L-Iduronidase (IDUA) Gene

Genetics in Medicine
MedicineGenetics
2002English

Identification of Three ADA2 Deficiency Families With Novel CECR1 Mutations

Pediatric Rheumatology
ImmunologyPediatricsRheumatologyAllergyPerinatologyChild Health
2015English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy