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Identification and Detection of the Common 65-kb Deletion Breakpoint in the Nephropathic Cystinosis Gene (CTNS)

  • Published:1999-02 Issue:2 Volume:66 Page:111-116
  • ISSN:1096-7192
  • Container-title:Molecular Genetics and Metabolism
  • language:en
  • Short-container-title:Molecular Genetics and Metabolism

Author:

Anikster Yair,Lucero Cynthia,Touchman Jeffrey W.,Huizing Marjan,McDowell Geraldine,Shotelersuk Vorasuk,Green Eric D.,Gahl William A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

1. Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leucocytes;Gahl;J Biol Chem,1982

2. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis;Gahl;Science,1982

3. ATP-dependent lysosomal cystine efflux is defective in cystinosis;Jonas;J Biol Chem,1982

4. Lysosomal transport disorders: cystinosis and sialic acid storage disorders;Gahl,1995

5. Cystinosis coming of age;Gahl;Adv Pediatr,1986

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