Molecular characterization of the PK-LR gene in pyruvate kinase deficient spanish patients

British Journal of Haematology

Volumn 103, Issue 2, 1998, Pages 377-382

  Zarza, R ^a   Alvarez, R ^a   Pujades, A ^a   Nomdedeu, B ^a   Carrera, A ^b   Estella, J ^c   Remacha, A ^d   Sanchez J M ^e   Morey, M ^f   Cortes, T ^g   Perez Lungmus G ^g   Bureo, E ^h   Vives Corrons, J L ^a  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

^d HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^e HOSPITAL ARNAU DE VILANOVA   (Spain)

^f HOSPITAL SON DURETA   (Spain)

^g HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^h HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

Author keywords

Chronic non spherocytic haemolytic anaemia; Mutations; PK deficiency; PK variants; SSCE

Indexed keywords

PYRUVATE KINASE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HEMOLYTIC ANEMIA; HUMAN; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

ADOLESCENT; ADULT; ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PYRUVATE KINASE; SEQUENCE ANALYSIS, DNA; SPAIN;

EID: 7844234370     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.01013.x     Document Type: Article

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