A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy

Pediatric Research

Volumn 42, Issue 4, 1997, Pages 448-454

  Verma, Ashok ^a   Piccoli, David A ^b   Bonilla, Eduardo ^c   Berry, Gerard T ^b   DiMauro, Salvatore ^c   Moraes, Carlos T ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHILD; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; GASTROINTESTINAL SYMPTOM; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; PERCEPTION DEAFNESS; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030843425     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-199710000-00005     Document Type: Article

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