Extension of the mutation spectrum in Friedreich's ataxia: Detection of an exon deletion and novel missense mutations

European Journal of Human Genetics

Volumn 12, Issue 11, 2004, Pages 979-982

  Zuhlke C H ^a   Dalski, A ^a   Habeck, M ^a   Straube, K ^a   Hedrich, K ^a   Hoeltzenbein, M ^b   Konstanzer, A ^c   Hellenbroich, Y ^a   Schwinger, E ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c Neurolog Praxis   (Germany)

Author keywords

Exon deletion; Friedreich's ataxia; Point mutation; Repeat expansion

Indexed keywords

ADENOSINE; ARGININE; ASPARTIC ACID; FRATAXIN; GENOMIC DNA; GUANINE; LEUCINE; LYSINE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; EXON; FEMALE; FRIEDREICH ATAXIA; GENE DELETION; GENETIC ANALYSIS; GENETIC CODE; GENETIC SCREENING; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INTRON; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRIEDREICH ATAXIA; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE DELETION;

ATAXIA;

EID: 7744226086     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201257     Document Type: Article

References (7)

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