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R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
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R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia.
R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia. Pediatr Nephrol. 2005 Dec; 20(12):1724-8.
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PubMed
subject areas
Amino Acid Motifs
Amino Acid Sequence
Amino Acid Substitution
Angiotensin II Type 1 Receptor Blockers
Angiotensin-Converting Enzyme Inhibitors
Arginine
Base Sequence
Biopsy
Child
Consanguinity
DNA Helicases
DNA Mutational Analysis
Enalapril
Exons
Follow-Up Studies
Genes, Recessive
Genetic Linkage
Homozygote
Humans
Kidney
Losartan
Male
Molecular Sequence Data
Mutation, Missense
Nephrotic Syndrome
Osteochondrodysplasias
Pedigree
Protein Structure, Tertiary
Radiography
Sequence Homology, Amino Acid
Time Factors
Treatment Outcome
Turkey
authors with profiles
Michael Z. Ludwig