Presence of a major WFS1 mutation in Spanish Wolfram Syndrome pedigrees

Molecular Genetics and Metabolism

Volumn 72, Issue 1, 2001, Pages 72-81

  Gómez Zaera, Montse ^a   Strom, Tim M ^b   Rodríguez, Benjamín ^a   Estivill, Xavier ^a   Meitinger, Thomas ^b   Nunes, Virginia ^a  

^a Institut de Recerca Oncologica   (Spain)

^b LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

DIDMOAD; mtDNA deletions; mtDNA point mutations; WFS1 mutations; Wolfram syndrome

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 4P; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DELETION MUTANT; DIABETES MELLITUS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; HUMAN CELL; MALE; MELAS SYNDROME; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN; WOLFRAM SYNDROME;

INSERTION SEQUENCES;

EID: 0035718971     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3107     Document Type: Article

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