Mutational spectrum of the ctns gene in Egyptian patients with nephropathic cystinosis

JIMD Reports

Volumn 14, Issue , 2014, Pages 87-97

  Soliman, Neveen A ^a,b   Elmonem, Mohamed A ^a   van den Heuvel, Lambertus ^c,d   Abdel Hamid, Rehab H ^a,b   Gamal, Mohamed ^a,b   Bongaers, Inge ^c   Marie, Sandrine ^e   Levtchenko, Elena ^c  

^a CAIRO UNIVERSITY   (Egypt)

^b Egyptian Group for Orphan Renal Diseases EGORD   (Egypt)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

Egyptian patient; Inherited metabolic disorder; Nephropathic cystinosis; Renal fanconi syndrome; Splice mutation

Indexed keywords

EID: 85029878950     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2013_288     Document Type: Chapter

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