Ataxia with isolated vitamin E deficiency: Heterogeneity of mutations and phenotypic variability in a large number of families

American Journal of Human Genetics

Volumn 62, Issue 2, 1998, Pages 301-310

  Cavalier, Laurent ^a,b   Ouahchi, Karim ^a,e   Kayden, Herbert J ^c   Di Donato, Stephano ^d   Reutenauer, Laurence ^a   Mandel, Jean Louis ^a,b   Koenig, Michel ^a,b  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e Inst Genet Biol Molec et Cell ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA TOCOPHEROL; CARRIER PROTEIN;

ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; EXON; FAMILY STUDY; FRIEDREICH ATAXIA; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; VITAMIN DEFICIENCY;

EID: 0031889483     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301699     Document Type: Article

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