Cultured fibroblasts as a tool for improvement of molecular analysis in ornithine transcarbamylase (OTC) deficiency

Human Mutation

Volumn 21, Issue 6, 2003, Pages 649-

  Häberle, Johannes ^a   Koch, Hans Georg ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; ORNITHINE CARBAMOYLTRANSFERASE;

CELL CULTURE; DNA DETERMINATION; ENZYME DEFICIENCY; FIBROBLAST CULTURE; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; LETTER; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY;

BIOPSY; CELL CULTURE TECHNIQUES; CELLS, CULTURED; DNA, COMPLEMENTARY; FIBROBLASTS; HUMANS; LYMPHOCYTES; ORNITHINE CARBAMOYLTRANSFERASE; RNA, MESSENGER;

EID: 0038579443     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10210     Document Type: Letter

References (3)

1. Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E. 2000. Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations. Hum Mutat 15:380-381.
2. Rapp B, Häberle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG. 2001. Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. Eur J Pediatr 160:283-287.
3. Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG. 2002. Mutations and Polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 19:93-107.