Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

Pediatric Research

Volumn 39, Issue 5, 1996, Pages 914-917

  Santorelli, Filippo M ^a   Mak, Suk Chun ^a   Vazquez Memije, Marta E ^a   Shanske, Sara ^a   Kranz Eble, Pamela ^a   Jain, Karen D ^b   Bluestone, Daniel L ^c   De Vivo, Darryl C ^a   DiMauro, Salvatore ^a,d  

^a Columbia University ^*  (United States)

^b CHILDREN S HOSPITAL LOS ANGELES   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d The New York Presbyterian Hospital   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; ATAXIA; CHILD; DISEASE COURSE; DNA DETERMINATION; DNA SEQUENCE; FEMALE; HUMAN; HUMAN TISSUE; LEIGH DISEASE; MALE; MUSCLE WEAKNESS; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL; SEIZURE, EPILEPSY AND CONVULSION;

EID: 0029877629     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199605000-00028     Document Type: Article

References (14)

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