Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.

Human mutation

Volumn 20, Issue 3, 2002, Pages 237-

  Kiehntopf, Michael ^a   Schickel, Jörg ^a   Gönne, Bärbel von der ^a   Koch, Hans Georg ^a   Superti Furga, Andrea ^a   Steinmann, Beat ^a   Deufel, Thomas ^a   Harms, Erik ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CTNS PROTEIN, HUMAN; DNA; GLYCOPROTEIN; MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CHEMISTRY; COHORT ANALYSIS; CYSTINOSIS; FOUNDER EFFECT; GENE DELETION; GENE EXPRESSION REGULATION; GENETICS; GERMANY; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; SWITZERLAND;

AMINO ACID SEQUENCE; BASE SEQUENCE; COHORT STUDIES; CYSTINOSIS; DNA; DNA MUTATIONAL ANALYSIS; FOUNDER EFFECT; GENE DELETION; GERMANY; GLYCOPROTEINS; HUMANS; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; POINT MUTATION; SEQUENCE DELETION; SWITZERLAND;

MLCS; MLOWN;

EID: 18744371339     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9063     Document Type: Article

References (0)