Hb s-san martin: A new sickling hemoglobin with two amino acid substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] in an argentinean family

Hemoglobin

Volumn 34, Issue 5, 2010, Pages 500-504

  Feliu Torres, Aurora ^a   Eberle, Silvia Eandi ^a   Brags, Irma M ^b   Sciuccati, Gabriela ^a   Ojeda, Mara J ^b   Calvo, Karina L ^b,c   Voss, Mara E ^b   Pratti, Arianna F ^b   Milani, Angela C ^b   Bonduel, Mariana ^a   Daz, Lilian ^a   Noguera, Nélida I ^b,c,d  

^a Hospital de Pediatria SAMIC Prof Dr Juan P Garrahan   (Argentina)

^b UNIVERSIDAD NACIONAL DE ROSARIO   (Argentina)

^c Consejo Nacional de Investigaciones Cientficas y Técnicas ^*  (Argentina)

^d IRCCS FONDAZIONE SANTA LUCIA   (Italy)

Author keywords

Hb S; Unstable hemoglobin (Hb); Variant hemoglobin (Hb)

Indexed keywords

BETA GLOBIN; GLUTAMINE; HEMOGLOBIN S; HEMOGLOBIN VARIANT; LEUCINE; PROLINE; VALINE;

AMINO ACID SUBSTITUTION; ARGENTINA; ARTICLE; BLOOD ANALYSIS; CASE REPORT; CHILD; DNA SEQUENCE; EXON; GENE MUTATION; GENE STRUCTURE; HUMAN; MALE; PHENOTYPE; SCHOOL CHILD; THALASSEMIA;

AMINO ACID SUBSTITUTION; ARGENTINA; BASE SEQUENCE; BETA-GLOBINS; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; HEMOGLOBIN, SICKLE; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MODELS, MOLECULAR; MUTATION; PROTEIN STRUCTURE, SECONDARY;

EID: 77956895474     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.3109/03630269.2010.513646     Document Type: Article

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