TC II deficiency: Avoidance of false-negative molecular genetics by RNA-based investigations

Journal of Human Genetics

Volumn 54, Issue 6, 2009, Pages 331-334

  Häberle, Johannes ^a,b,f   Pauli, Silke ^a,c   Berning, Christoph ^a   Koch, Hans G ^a,d   Linnebank, Michael ^a,e  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b Division of Metabolism   (Switzerland)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d KLINIKUM BRAUNSCHWEIG   (Germany)

^e UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^f UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Megaloblastic anemia; RNA; Transcobalamin; Transcript analysis

Indexed keywords

COMPLEMENTARY DNA; RNA; TRANSCOBALAMIN II;

ARTICLE; CASE REPORT; DNA DETERMINATION; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; LABORATORY DIAGNOSIS; MOLECULAR GENETICS; PERIPHERAL LYMPHOCYTE; RNA ANALYSIS; SKIN FIBROBLAST; VITAMIN DEFICIENCY;

ANEMIA, MEGALOBLASTIC; CHILD; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; LYMPHOCYTES; MALE; PROGNOSIS; RNA; SKIN; TRANSCOBALAMINS;

EID: 67650813153     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2009.34     Document Type: Article

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