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Publications by authors named "Kathleen Kubik"

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Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.
James D Hoyer Steven L Allen Ernest Beutler Kathleen Kubik Carol West

Am J Hematol

April 2004

A 28-year-old asymptomatic male of Iranian Jewish (Meshadi) heritage was found on routine exam to have an erythrocytosis (RBC = 6.22 x 10(12)/l, Hgb = 19.2 g/dl, Hct = 58.

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Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].
James D Hoyer John Weinhold Elisabeth Mailhot David Alter Daniel J McCormick Kathleen S Kubik

Hemoglobin

November 2003

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Hb Rampa [alpha 95(G2)pro-->Ser (alpha 2)] in a family of European ancestry: DNA analysis confirms the CCG-->TCG mutation at codon 95 of the alpha 2-globin gene; clinical and laboratory features.
James D Hoyer Eric Rachut Kathleen S Kubik Richard T Jones George R Honig

Hemoglobin

November 2002

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Four new beta chain hemoglobin variants without clinical or hematological effects: Hb San Bruno [beta39(C5)Gln-->His]; Hb Fort Dodge [beta93(F9)Cys-Tyr]; Hb Rhode Island [beta116(G18)His-->Tyr]; and Hb Inglewood [beta142(H20)Ala-->Thr].
James D Hoyer Daniel J McCormick Karen Snow Kathleen S Kubik Michael W Holmes

Hemoglobin

August 2002

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Three new variants of the alpha1-globin gene without clinical or hematologic effects: Hb Hagerstown [alpha44(CE2)Pro-->Ala (alpha1)]; Hb Buffalo [alpha89(FG1)His-->Gln (alpha1)], a hemoglobin variant from Somalia and Yemen; Hb Wichita [alpha95(G2)Pro-->Gln (alpha1)]; and a second, unrelated, case of Hb Roubaix [alpha55(E4)Val-->Leu (alpha1)].
James D Hoyer Daniel J McCormick Karen Snow Jack Lawler Melissa Jadick Kathleen S Kubik

Hemoglobin

August 2002

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Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)].
James D Hoyer Daniel J McCormick Karen Snow Jong H Kwon David Booth Kathleen S Kubik

Hemoglobin

May 2002

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