VACTERL with the mitochondrial NP 3243 point mutation

American Journal of Medical Genetics

Volumn 62, Issue 4, 1996, Pages 398-403

  Damian, M S ^a   Seibel, P ^b   Schachenmayr, W ^a   Reichmann, H ^b   Dorndorf, W ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

cardiomyopathy; MELAS; mitochondrial disease; VACTERL

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; AGED; ARTICLE; BIOPSY; CLINICAL ARTICLE; DIGESTIVE SYSTEM MALFORMATION; DNA DETERMINATION; FETUS; HUMAN; INFANT; KIDNEY MALFORMATION; LIMB MALFORMATION; MALFORMATION SYNDROME; POINT MUTATION; PRIORITY JOURNAL; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANAL CANAL; ANIMALS; DNA, MITOCHONDRIAL; FEMALE; FOLLOW-UP STUDIES; GENETIC MARKERS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; KIDNEY; KIDNEY FAILURE; LIMB DEFORMITIES, CONGENITAL; PEDIGREE; POINT MUTATION; TRACHEOESOPHAGEAL FISTULA; VERTEBRATES;

EID: 0029872994     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960424)62:4<398::AID-AJMG13>3.0.CO;2-J     Document Type: Article

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