Literature DB >> 7967485

Different restriction fragment pattern of mtDNA indicative of generalized 8993 point mutations in a boy with lactic acidosis.

P Klement1, J Zeman, H Hansikova, H Houstkova, M Baudysova, J Houstek.   

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Year:  1994        PMID： 7967485     DOI： 10.1007/BF00711630

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Authors:  I J Holt; A E Harding; R K Petty; J A Morgan-Hughes
Journal:  Am J Hum Genet       Date:  1990-03       Impact factor: 11.025

2.  Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Authors:  Y Tatuch; J Christodoulou; A Feigenbaum; J T Clarke; J Wherret; C Smith; N Rudd; R Petrova-Benedict; B H Robinson
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

3.  Maternally inherited Leigh syndrome.

Authors:  E Ciafaloni; F M Santorelli; S Shanske; T Deonna; E Roulet; C Janzer; G Pescia; S DiMauro
Journal:  J Pediatr       Date:  1993-03       Impact factor: 4.406
  3 in total
  3 in total

1.  Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.

Authors:  S L White; V R Collins; R Wolfe; M A Cleary; S Shanske; S DiMauro; H H Dahl; D R Thorburn
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  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

3.  Importance of sequence analysis in NARP syndrome.

Authors:  S Seneca; L De Meirleir; I Liebaers; W Lissens
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  3 in total

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