E. R. Giblett

Complete Pseudocholinesterase Deficiency: Genetic and Immunologic Characterization*

Hodgkin, W. E., Giblett, E. R., Levine, H., Bauer, W., Motulsky, A. G.

Red cell membrane alteration associated with "marrow stress".

Hillman, R S, Giblett, E R

Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation.

Chen, S H, Ochs, H D, Scott, C R, Giblett, E R, Tingle, A J

Accumulation of adenine deoxynucleotides (dATP and dADP) in the erythrocytes of a patient with adenosine deaminase (ADA) deficiency was confirmed. The patient, now 18 mo old, was treated with a bone...

Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9.

Allderdice, P W, Kaita, H, Lewis, M, McAlpine, P J, Wong, P, Anderson, J, ...

Cytogenetic, enzyme dosage, serological, and electrophoretic analyses of blood samples from members of three Newfoundland kindreds in which one specific paracentric insertion chromosome inv...

A crossover or mutation in the Rh region revisited.

Steinberg, A G, Giblett, E R, Lewis, M, Zachary, A A

Red cell uridine monophosphate kinase: effects of red cell aging on the activity of two UMPK gene products.

Teng, Y, Chen, S, Giblett, E R

We have previously reported that uridine monophosphate kinase (UMPK) is genetically polymorphic in man, and that the UMPK2 gene product has less activity than that of UMPK1 when measured in normal...

The Lutheran and secretor loci: genetic linkage analysis.

Lewis, M, Kaita, H, Chown, B, Giblett, E R, Anderson, J, Côté, G B

Linkage analysis of Lu and Se and 31 other loci indicate that Lu:Se are not closely linked to ABO, ACP1, Co, Do, Est.D,Fy, GC, Gm, GLO:HLA, GPT, Inv, Jk,K,MN,P,PGD,PGM1, Rh,Sc, UMPK OR Yt. Lod scores...

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Bird, T D, Ott, J, Giblett, E R

A linkage study was performed on three families with classic Charcot-Marie-Tooth (CMT) hereditary neuropathy with clinical manifestations of autosomal dominant inheritance, distal muscle weakness and...

Human red cell 2,3-diphosphoglycerate mutase and monophosphoglycerate mutase: genetic evidence for two separate loci.

Chen, S H, Anderson, J E, Giblett, E R

Rare genetic variants of human red cell 2,3-diphosphoglycerate mutase (DPGM) and monophosphoglycerate mutase (MPGM) were compared by starch gel electrophoresis. The isozyme patterns showed that...

Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes.

Chen, S H, Scott, C R, Giblett, E R, Levin, A S

Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies.

Mueller, R F, Hornung, S, Furlong, C E, Anderson, J, Giblett, E R, Motulsky, A G

Plasma paraoxonase hydrolyzes paraoxon, the principal metabolite of the insecticide parathione. A genetic polymorphism for enzyme activity has been previously demonstrated. We describe a new assay...

Complete Pseudocholinesterase Deficiency: Genetic and Immunologic Characterization*

Hodgkin, W. E., Giblett, E. R., Levine, H., Bauer, W., Motulsky, A. G.

Red cell membrane alteration associated with "marrow stress".

Hillman, R S, Giblett, E R

Adenosine deaminase deficiency: disappearance of adenine deoxynucleotides from a patient's erythrocytes after successful marrow transplantation.

Chen, S H, Ochs, H D, Scott, C R, Giblett, E R, Tingle, A J

Accumulation of adenine deoxynucleotides (dATP and dADP) in the erythrocytes of a patient with adenosine deaminase (ADA) deficiency was confirmed. The patient, now 18 mo old, was treated with a bone...

Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9.

Allderdice, P W, Kaita, H, Lewis, M, McAlpine, P J, Wong, P, Anderson, J, ...

Cytogenetic, enzyme dosage, serological, and electrophoretic analyses of blood samples from members of three Newfoundland kindreds in which one specific paracentric insertion chromosome inv...

A crossover or mutation in the Rh region revisited.

Steinberg, A G, Giblett, E R, Lewis, M, Zachary, A A

Red cell uridine monophosphate kinase: effects of red cell aging on the activity of two UMPK gene products.

Teng, Y, Chen, S, Giblett, E R

We have previously reported that uridine monophosphate kinase (UMPK) is genetically polymorphic in man, and that the UMPK2 gene product has less activity than that of UMPK1 when measured in normal...

The Lutheran and secretor loci: genetic linkage analysis.

Lewis, M, Kaita, H, Chown, B, Giblett, E R, Anderson, J, Côté, G B

Linkage analysis of Lu and Se and 31 other loci indicate that Lu:Se are not closely linked to ABO, ACP1, Co, Do, Est.D,Fy, GC, Gm, GLO:HLA, GPT, Inv, Jk,K,MN,P,PGD,PGM1, Rh,Sc, UMPK OR Yt. Lod scores...

Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1.

Bird, T D, Ott, J, Giblett, E R

A linkage study was performed on three families with classic Charcot-Marie-Tooth (CMT) hereditary neuropathy with clinical manifestations of autosomal dominant inheritance, distal muscle weakness and...

Human red cell 2,3-diphosphoglycerate mutase and monophosphoglycerate mutase: genetic evidence for two separate loci.

Chen, S H, Anderson, J E, Giblett, E R

Rare genetic variants of human red cell 2,3-diphosphoglycerate mutase (DPGM) and monophosphoglycerate mutase (MPGM) were compared by starch gel electrophoresis. The isozyme patterns showed that...

Adenosine deaminase deficiency: another family with "silent" ADA allele and normal ADA activity in two heterozygotes.

Chen, S H, Scott, C R, Giblett, E R, Levin, A S

Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies.

Mueller, R F, Hornung, S, Furlong, C E, Anderson, J, Giblett, E R, Motulsky, A G

Plasma paraoxonase hydrolyzes paraoxon, the principal metabolite of the insecticide parathione. A genetic polymorphism for enzyme activity has been previously demonstrated. We describe a new assay...

Measurable linkage between ocular albinism and Xg.

Fialkow, P J, Giblett, E R, Motulsky, A G

Studies on several genetic hematological traits of Mexicans. XI. Red cell acid phosphatase and phosphoglucomutase in three Indian groups.

Lisker, R, Giblett, E R

Two rare haptoglobin phenotypes, 1-B and 2-B, containing a previously undescribed alpha-polypeptide chain.

Giblett, E R, Uchida, I, Brooks, L E

Population genetic studies in the Congo. IV. Haptoglobin and transferrin serum groups in the Congo and in other African population.s.

Giblett, E R, Motusky, A G, Fraser, G R

Population genetic studies in the Congo. 3. Blood groups (ABO, MNSs, Rh, Jsa).

Fraser, G R, Giblett, E R, Motulsky, A G

NADH diaphorase: an inherited variant associated with normal methemoglobin reduction.

Detter, J C, Anderson, J E, Giblett, E R

Phosphoglycerate kinase: an X-linked polymorphism in man.

Chen, S H, Malcolm, L A, Yoshida, A, Giblett, E R

Genetic variation of soluble glutamic-oxaloacetic transaminase in man.

Chen, S H, Giblett, E R

Phosphoglycerate kinase: additional variants and their geographic distribution.

Chen, S H, Giblett, E R

Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man.

Chen, S H, Fossum, B L, Giblett, E R

Adenosine deaminase: demonstration of a "silent" gene associated with combined immunodeficiency disease.

Chen, S H, Scott, R, Giblett, E R

Phosphoglyceric acid mutase: rare genetic variants and tissue distribution.

Chen, S H, Anderson, J, Giblett, E R, Lewis, M

Uridine monophosphate kinase: A new genetic polymorphism with possible clinical implications.

Giblett, E R, Anderson, J E, Chen, S H, Teng, Y S, Cohen, F

Cytidine deaminase: a new genetic polymorphism demonstrated in human granulocytes.

Teng, Y S, Anderson, J E, Giblett, E R

Cytidine deaminase in human white blood cells has three electrophoretic phenotypes representing the homozygous and heterozygous expression of two common alleles, CDA1 and CDA2, at an autosomal locus....

Blood Groups in the Philippines

Fraser, G. R., Giblett, E. R., Stransky, E., Motulsky, A. G.

Blood and Serum Groups in Taiwan

Fraser, G. R., Giblett, E. R., Lee, Ting-Chien, Motulsky, A. G.

Clinical manifestations of familial 13;18 translocation.

Blattner, W A, Kistenmacher, M L, Tsai, S, Punnett, H H, Giblett, E R

Female first cousins, aged 21 and 2 1/2 years, with many of the characteristic features of trisomy 18, were found to have identical unbalanced translocations, 46,XX,--13, + der(13)t(13;18)...

Adenosine deaminase: racial distribution and report of a new phenotype.

Detter, J C, Stamatoyannopoulos, G, Giblett, E R, Motulsky, A G