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Journal article

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations

Mardhiah Mohammad, Ranjit Nanra, Deb Colville, Paul Trevillian, Yanyan Wang, Helen Storey, Frances Flinter, Judy Savige

PEDIATRIC NEPHROLOGY | SPRINGER | Published : 2014

DOI: 10.1007/s00467-013-2682-6

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University of Melbourne Researchers

Yan Wang's Profile Picture
Yan Wang Author Medicine - Royal Melbourne Hospital

Judith Savige's Profile Picture
Judith Savige Author Medicine - Royal Melbourne Hospital

Deb Colville's Profile Picture
Deb Colville Author Ophthalmology Eye and Ear Hospital

Grants

Awarded by Wellcome Trust


Citation metrics

4Web of Science
6Scopus

Keywords

Heterozygote
Renal-Failure
Genes, X-Linked
Time Factors
Aged
Mutation
X-Linked Alport Syndrome
Life Sciences & Biomedicine
Col4a5 Mutation
Humans
Inhibition
Carriers
Disease Progression
195 Families
Young Adult
Male
Dna Mutational Analysis
Science & Technology
Kidney Failure, Chronic
Genotype-Phenotype Correlations
Renal Insufficiency
Adult
Pediatrics
Pedigree
Natural-History
Heredity
Adolescent
Urology & Nephrology
Female
Prognosis
Phenotype
Collagen Type Iv
Genetic Predisposition To Disease
Mosaicism
Nephritis, Hereditary
Retinopathy

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