Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

Nature Genetics

Volumn 21, Issue 3, 1999, Pages 309-313

  Aminoff, Maria ^a,b   Carter, Jo Ellen ^a   Chadwick, Robert B ^a   Johnson, Cheryl ^a   Gräsbeck, Ralph ^c   Abdelaal, Mohamed A ^d   Broch, Harald ^e   Jenner, Lasse B ^f   Verroust, Pierre J ^g   Moestrup, Soeren K ^f   De La Chapelle, Albert ^a,b   Krahe, Ralf ^a,b  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c MINERVA FOUNDATION INSTITUTE FOR MEDICAL RESEARCH   (Finland)

^d KING KHALID HOSPITAL   (Saudi Arabia)

^e Vestfold Central Hospital   (Norway)

^f AARHUS UNIVERSITY   (Denmark)

^g INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; INTRINSIC FACTOR;

ARTICLE; CHROMOSOME 10P; CYANOCOBALAMIN DEFICIENCY; DISEASE ASSOCIATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENE MUTATION; HUMAN; MEGALOBLASTIC ANEMIA; MIDDLE EAST; MOLECULAR CLONING; NORWAY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PREVALENCE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANEMIA, MEGALOBLASTIC; BASE SEQUENCE; BLOTTING, SOUTHERN; BLOTTING, WESTERN; CONTIG MAPPING; FINLAND; HAPLOTYPES; HOMOZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; NORWAY; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, GENETIC; RECEPTORS, CELL SURFACE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SAUDI ARABIA; URINE;

EID: 0033051889     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/6831     Document Type: Article

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