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GWAS 2014-07-19

The genetics of hemoglobin A2 regulation in sickle cell anemia.

Griffin PJ, Sebastiani P et al.

Am J Hematol

Hemoglobin A2 , a tetramer of α- and δ-globin chains, comprises less than 3% of total hemoglobin in ...

Hemoglobin A2 levels in sickle cell anemia

Replicated

1189

Participants

N/A

Studies

Details PubMed

GWAS 2012-01-19

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB et al.

Am J Hematol

Mutations in GBA1 gene result in defective acid β-glucosidase and the complex phenotype of Gaucher d...

Gaucher disease severity

139

Participants

N/A

Studies

Details PubMed

GWAS 2009-10-23

Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.

Sebastiani P, Solovieff N et al.

Am J Hematol

We conducted a genome-wide association study (GWAS) to discover single nucleotide polymorphisms (SNP...

Sickle cell anemia (severity)

Replicated

1428

Participants

N/A

Studies

Details PubMed

Title

Author

Journal

Disease/Trait

Date

Actions

The genetics of hemoglobin A2 regulation in sickle cell anemia.

Griffin PJ, Sebastiani P et al.

Am J Hematol

Hemoglobin A2 levels in sickle cell anemia

2014-07-19

Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Zhang CK, Stein PB et al.

Am J Hematol

Gaucher disease severity

2012-01-19

Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.

Sebastiani P, Solovieff N et al.

Am J Hematol

Sickle cell anemia (severity)

2009-10-23