PK Mondor: Prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia

Prenatal Diagnosis

Volumn 16, Issue 2, 1996, Pages 97-104

  Rouger, H ^a,b   Girodon, E ^a   Goossens, M ^a   Galacteros F ^a   Cohen Solal, M ^a  

^a HENRI MONDOR HOSPITAL   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Anaemia; Frameshift mutation; Prenatal diagnosis; Pyruvate kinase

Indexed keywords

ISOENZYME; PYRUVATE KINASE;

ARTICLE; BIOPSY; CASE REPORT; ENZYME DEFICIENCY; ERYTHROCYTE; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC ANALYSIS; HEMOLYTIC ANEMIA; HEREDITY; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; BASE SEQUENCE; CHORIONIC VILLI SAMPLING; FEMALE; FRAMESHIFT MUTATION; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMERASE CHAIN REACTION; PREGNANCY; PYRUVATE KINASE;

EID: 0030032453     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199602)16:2<97::AID-PD814>3.0.CO;2-O     Document Type: Article

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