Luminal expression of cubilin is impaired in imerslund-gräsbeck syndrome with compound AMN mutations in intron 3 and exon 7

Haematologica

Volumn 96, Issue 11, 2011, Pages 1715-1719

  Namour, Fares ^a,b   Dobrovoljski, Gabriele ^c   Chery, Celine ^a,b   Audonnet, Sandra ^a,b   Feillet, François ^a,b   Sper, Wolfgang ^c   Gueant, Jean Louis ^a,b  

^a UNIVERSITÉ DE LORRAINE   (France)

^b UNIVERSITY HOSPITAL OF NANCY   (France)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

Amnionless; Imerslund gr sbeck syndrome; Malabsorption; Megaloblastic anemia; Vitamin b12

Indexed keywords

AMNIONLESS PROTEIN; CUBILIN; INTRINSIC FACTOR; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMN GENE; ANEMIA; ARTICLE; CASE REPORT; CHILD; CUBN GENE; DRUG EFFICACY; EXON; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; IMERSLUND GRASBECK SYNDROME; INTRON; MALE; MEGALOBLASTIC ANEMIA; PRESCHOOL CHILD; PROTEIN EXPRESSION; RECEPTOR AFFINITY; SCHOOL CHILD; STOP CODON;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; EXONS; FEMALE; GENE EXPRESSION REGULATION; HUMANS; INTRONS; MALABSORPTION SYNDROMES; MALE; PROTEINS; PROTEINURIA; RECEPTORS, CELL SURFACE; SIBLINGS; VITAMIN B 12 DEFICIENCY;

EID: 80355125808     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.043984     Document Type: Article

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