Mutation of the start codon in the FRDA1 gene: Linkage analysis of three pedigrees with the ATG to ATT transversion points to a unique common ancestor

Human Genetics

Volumn 103, Issue 1, 1998, Pages 102-105

  Zühlke, Christine ^a   Laccone, Franco ^b   Cossée, Mireille ^c   Kohlschütter, Alfried ^d   Koenig, Michel ^c   Schwinger, Eberhard ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

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

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 9; FRIEDREICH ATAXIA; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HUMAN; PEDIGREE; POINT MUTATION; PRIORITY JOURNAL; START CODON; TRINUCLEOTIDE REPEAT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BASE SEQUENCE; CHROMOSOME MAPPING; CODON, INITIATOR; FEMALE; FRIEDREICH ATAXIA; GENETIC MARKERS; HETEROZYGOTE DETECTION; HUMANS; MALE; NERVE TISSUE PROTEINS; NUCLEAR FAMILY; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRINUCLEOTIDE REPEATS;

ATAXIA;

EID: 0031683863     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050791     Document Type: Article

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