Transcobalamin deficiency caused by compound heterozygosity for two novel mutations in the TCN2 gene: A study of two affected siblings, their brother, and their parents

Journal of Inherited Metabolic Disease

Volumn 33, Issue SUPPL. 3, 2010, Pages

  Nissen, Peter H ^a   Nordwall, Maria ^b,c   Hoffmann Lücke, Elke ^a   Sorensen, Boe S ^a   Nexo, Ebba ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b VRINNEVI HOSPITAL   (Sweden)

^c LINKÖPING UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; MESSENGER RNA; TRANSCOBALAMIN;

ADULT; ARTICLE; BIOLOGY; BLOOD; CASE REPORT; EXON; FEMALE; GENE DELETION; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEREDITY; HETEROZYGOTE; HUMAN; INBORN ERROR OF METABOLISM; INFANT; MALE; METABOLISM; METHODOLOGY; MOLECULAR GENETICS; NEWBORN; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PARENT; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; SIBLING; DEFICIENCY; METABOLISM, INBORN ERRORS; PROCEDURES;

ADULT; BASE SEQUENCE; BIOLOGICAL MARKERS; CHILD, PRESCHOOL; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEREDITY; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; NONSENSE MEDIATED MRNA DECAY; PARENTS; PEDIGREE; PHENOTYPE; RNA, MESSENGER; SIBLINGS; TRANSCOBALAMINS;

EID: 84897956491     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9145-z     Document Type: Article

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