Atypical friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion [6]

American Journal of Human Genetics

Volumn 60, Issue 5, 1997, Pages 1251-1256

  Bidichandani, S I ^a   Ashizawa, T ^a   Patel, P I ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; EXON; FRIEDREICH ATAXIA; HETEROZYGOSITY; HUMAN; LETTER; MISSENSE MUTATION; NERVE DEGENERATION; NUCLEOTIDE REPEAT; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CONSERVED SEQUENCE; FEMALE; FRIEDREICH ATAXIA; HETEROZYGOTE; HUMANS; IRON-BINDING PROTEINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TRINUCLEOTIDE REPEATS;

EID: 0030895266     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (14)