Literature DB >> 1325051

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.

T Bourgeron, D Chrétien, A Rötig, A Munnich, P Rustin.   

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Year:  1992        PMID: 1325051     DOI: 10.1002/pd.1970120614

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


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  3 in total

1.  Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.

Authors:  S L White; S Shanske; J J McGill; H Mountain; M T Geraghty; S DiMauro; H H Dahl; D R Thorburn
Journal:  J Inherit Metab Dis       Date:  1999-12       Impact factor: 4.982

2.  The development of novel quantification assay for mitochondrial DNA heteroplasmy aimed at preimplantation genetic diagnosis of Leigh encephalopathy.

Authors:  Hiroto Tajima; Kou Sueoka; Sung Yung Moon; Akira Nakabayashi; Tomoyoshi Sakurai; Yukitaka Murakoshi; Hiroyoshi Watanabe; Soukichi Iwata; Tsuyoshi Hashiba; Shingo Kato; Yu-Ichi Goto; Yasunori Yoshimura
Journal:  J Assist Reprod Genet       Date:  2007-03-08       Impact factor: 3.412

3.  Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.

Authors:  B Gérard; T Bourgeron; D Chretien; A Rötig; A Munnich; P Rustin
Journal:  Eur J Pediatr       Date:  1993-03       Impact factor: 3.183

  3 in total

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