Red cell adenylate kinase deficiency: Molecular study of 3 new mutations (118G>A, 190G>A, and GAC deletion) associated with hereditary nonspherocytic hemolytic anemia

Blood

Volumn 102, Issue 1, 2003, Pages 353-356

  Vives Corrons, Joan Lluis ^a   Garcia, Estefania ^b   Tusell, Joan J ^b   Varughese, Kottayill I ^b   West, Carol ^b   Beutler, Ernest ^b  

^a HOSPITAL CLÍNIC   (Spain)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ADENYLATE KINASE; ARGININE; COMPLEMENTARY DNA; CYTOSINE; GLYCINE; GUANOSINE;

ARTICLE; BLOOD TRANSFUSION; CASE REPORT; CAUCASIAN; CONSANGUINEOUS MARRIAGE; CRYSTAL STRUCTURE; CYTOSOL; DELETION MUTANT; DISEASE ASSOCIATION; DNA SEQUENCE; ENZYME DEFICIENCY; ERYTHROCYTE DISORDER; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; JAUNDICE; MALE; MISSENSE MUTATION; MOLECULAR MODEL; NEWBORN PERIOD; NONSPHEROCYTIC CONGENITAL ANEMIA; NUCLEOTIDE SEQUENCE; PARENT; PATHOGENESIS; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; PSYCHOMOTOR DISORDER; SPAIN; SPLENOMEGALY;

EID: 0037902101     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2002-07-2288     Document Type: Article

References (18)

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