Literature DB >> 7623460

Importance of sequence analysis in NARP syndrome.

S Seneca1, L De Meirleir, I Liebaers, W Lissens.   

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Year:  1995        PMID： 7623460     DOI： 10.1007/bf00711391

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

Authors:  P Klement; J Zeman; H Hansikova; H Houstkova; M Baudysova; J Houstek
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

3.  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 in total

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