Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco

Pathologie Biologie

Volumn 57, Issue 5, 2009, Pages 425-426

  Bellayou, H ^a   Dehbi, H ^a   Bourezgui, M ^a   Slassi, I ^a   Nadifi, S ^a  

^a IBN ROCHD UNIVERSITY HOSPITAL   (Morocco)

Author keywords

744delA mutation; Ataxia; Autosomal recessive disease; Gene a tocopherol (a TTP); Genetic counselling; Molecular research; Morocco; Vitamin E deficiency

Indexed keywords

ALPHA TOCOPHEROL; ALPHA TOCOPHEROL TRANSFER PROTEIN; ALPHA-TOCOPHEROL TRANSFER PROTEIN; CARRIER PROTEIN; ENDODEOXYRIBONUCLEASE MBOII; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ALPHA TOCOPHEROL DEFICIENCY; ARTICLE; ATAXIA; DISEASE COURSE; DISEASE SEVERITY; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HUMAN; MOLECULAR GENETICS; MOROCCO; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PREVALENCE; CHROMOSOME 8; CONSANGUINITY; FEMALE; GENE DELETION; GENETICS; INTESTINE ABSORPTION; MALE; METHODOLOGY; NUCLEOTIDE SEQUENCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

CARRIER PROTEINS; CHROMOSOMES, HUMAN, PAIR 8; CONSANGUINITY; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; HUMANS; INTESTINAL ABSORPTION; MALE; MOROCCO; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PREVALENCE; SEQUENCE DELETION; SPINOCEREBELLAR ATAXIAS; VITAMIN E; VITAMIN E DEFICIENCY;

EID: 67649300675     PISSN: 03698114     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.patbio.2008.09.014     Document Type: Article

References (8)

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