Transcobalamin deficiency due to activation of an intra exonic cryptic splice site

British Journal of Haematology

Volumn 123, Issue 5, 2003, Pages 915-920

  Namour, Fares ^a,f   Helfer, Anne Catherine ^a   Quadros, Edward V ^b   Alberto, Jean Marc ^a   Bibi, Ha M ^c   Orning, Lars ^d   Rosenblatt, David S ^e   Jean Louis, Guéant ^a  

^a UNIVERSITÉ DE LORRAINE   (France)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

^c BARZILAI MEDICAL CENTER   (Israel)

^d Axis Shield ASA   (Norway)

^e MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^f INSERM   (France)

Author keywords

Anaemia; Mutation; Splice site; Transcobalamin deficiency; Vitamin B12

Indexed keywords

CYANOCOBALAMIN BINDING PROTEIN; MESSENGER RNA; NUCLEOTIDE; TRANSCOBALAMIN; VITAMIN RECEPTOR;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL LEVEL; CLINICAL FEATURE; CONTROLLED STUDY; DEPLETION; DEVELOPMENTAL DISORDER; ENDOCYTOSIS; EXON; FEMALE; GENE ACTIVATION; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENETIC HETEROGENEITY; HUMAN; INTERNALIZATION; INTRON; MEGALOBLASTIC ANEMIA; MENTAL DEVELOPMENT; MOLECULAR CLONING; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NONHUMAN; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN SECRETION; PROTEIN STABILITY; PSYCHOMOTOR DEVELOPMENT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; TRANSCOBALAMIN DEFICIENCY;

EID: 0347480355     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2003.04685.x     Document Type: Article

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