A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

Journal of Clinical Investigation

Volumn 97, Issue 7, 1996, Pages 1570-1576

  Barrientos, Antoni ^a,b   Volpini, Víctor ^b   Casademont, Jordi ^a   Genís, David ^c   Manzanares, Josep Maria ^e   Ferrer, Isidre ^d   Corral, Jordi ^b   Cardellach, Francesc ^a   Urbano Márquez, Alvaro ^a   Estivill, Xavier ^b,e   Nunes, Virginia ^b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b Institut de Recerca Oncologica   (Spain)

^c HOSPITAL JOSEP TRUETA   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e HOSPITAL CLÍNIC   (Spain)

Author keywords

autosomal recessive inheritance; DIDMOAD; linkage; neurodegenerative disease; OXPHOS

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME 4P; CHROMOSOME ABERRATION; CLINICAL ARTICLE; DEGENERATIVE DISEASE; DNA DETERMINATION; FEMALE; GENE DELETION; GENETIC LINKAGE; HUMAN; MALE; PEDIGREE; PRIORITY JOURNAL; WOLFRAM SYNDROME;

EID: 13344260008     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118581     Document Type: Article

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