Triose phosphate isomerase deficiency in 3 french families: Two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris)

Blood

Volumn 96, Issue 3, 2000, Pages 1130-1135

  Valentin, C ^a   Pissard, S ^a   Martin, J ^a   Heron, D ^a   Labrune, P ^a   Livet, M O ^a   Mayor, M ^a   Gelbart, T ^a   Schneider, A ^a   Max Audit, I ^a   Cohen Solal, M ^a  

^a INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

TRIOSEPHOSPHATE ISOMERASE;

ALLELE; ARTICLE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; ENZYME ANALYSIS; ENZYME DEFICIENCY; FAMILIAL DISEASE; FAMILY STUDY; FRAMESHIFT MUTATION; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; START CODON;

ADULT; ALLELES; ANEMIA, HEMOLYTIC; CHILD; CODON, INITIATOR; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT, NEWBORN; MALE; MIDDLE AGED; NEUROMUSCULAR DISEASES; SYNDROME; TRIOSE-PHOSPHATE ISOMERASE;

EID: 0034254248     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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