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Publications by Kozue Yamazaki
A Novel Double Mutation in the ABCD1 Gene in a Patient With X-Linked Adrenoleukodystrophy: Analysis of the Stability and Function of the Mutant ABCD1 Protein
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Related publications
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
PLoS ONE
Multidisciplinary
A Novel ABCD1 Gene Mutation in a Patient With X-Linked Adrenoleukodystrophy With Atypically Normal Plasma Levels of Very Long Chain Fatty Acids
Marmara Medical Journal
Medicine
Role of ALDP (ABCD1) and Mitochondria in X-Linked Adrenoleukodystrophy
Molecular and Cellular Biology
Cell Biology
Molecular Biology
A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)
Tohoku Journal of Experimental Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
A Novel Splicing Site Mutation of the GPR143 Gene in a Chinese X-Linked Ocular Albinism Pedigree
Genetics and Molecular Research
Medicine
Genetics
Molecular Biology
Mutation Analysis of the RPGR Gene Reveals Novel Mutations in South European Patients With X-Linked Retinitis Pigmentosa
European Journal of Human Genetics
Genetics
A Novel Mutation in the X-Linked Inhibitor of Apoptosis Protein Causing a Multi-System Autoinflammatory Disorder
Annals of Paediatric Rheumatology
A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
Multidisciplinary
A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia
Dermatology
Dermatology
