CTNS Mutations in an American-Based Population of Cystinosis Patients-Reference-Cited by-同舟云学术

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CTNS Mutations in an American-Based Population of Cystinosis Patients

Published:1998-11 Issue:5 Volume:63 Page:1352-1362
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Shotelersuk Vorasuk,Larson David,Anikster Yair,McDowell Geraldine,Lemons Rosemary,Bernardini Isa,Guo Juanru,Thoene Jess,Gahl William A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference36 articles.

1. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function;Charnas;N Engl J Med,1991

2. Distal vacuolar myopathy in nephropathic cystinosis;Charnas;Ann Neurol,1994

3. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17;Nat Genet,1995

4. Evidence for cerebral involvement in nephropathic cystinosis;Ehrich;Neuropaediatrie,1979

5. Neurologic complications in longstanding nephropathic cystinosis;Fink;Arch Neurol,1989

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3. Cystinosis — a review of disease pathogenesis, management, and future treatment options;Journal of Rare Diseases;2024-06-10

4. Residual Cystine Transport Activity for Specific Infantile and Juvenile CTNS Mutations in a PTEC-Based Addback Model;Cells;2024-04-06

5. CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants;Advanced Biomedical Research;2024-01

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