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Article

Deletion of Exons 3 through 5 of ABCG2 causes the Jr(a-) phenotype in a West African woman.

Transfusion - 1 Nov 2015

Saison Carole, Cartron Jean-Pierre, Arnaud Lionel

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Source

Identifiers

PMID: 26173500
DOI: 10.1111/trf.13223

Genes

ABCG2

Provenance

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Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletion of Exons 3 through 5 of ABCG2 causes the Jr(a-) phenotype in a West African woman.PMID 26173500Read ↗

A novel ABCG2 variant causing Jr(a-) phenotype.Semantic proximity Read ↗

Two novel ABCG2 alleles resulting in a Jr(a-) phenotype.Semantic proximity Read ↗

The ABCA subfamily—gene and protein structures, functions and associated hereditary diseasesSemantic proximity Read ↗

A homozygous variant in ABCA3 is associated with severe respiratory distress and early neonatal death.Semantic proximity Read ↗

Medically Important Alterations in Transport Function and Trafficking of ABCG2.Semantic proximity Read ↗

ABC A-subfamily transporters: Structure, function and diseaseSemantic proximity Read ↗

ABO gene mutation c.815_816insG in an African individual forms a novel Ael allele.Semantic proximity Read ↗

A new ABCG2 null allele with a 27-kb deletion including the promoter region causing the Jr(a-) phenotype.Semantic proximity Read ↗

A novel nonsense mutation of ABCA8 in a patient with reduced HDL-c levels and atherosclerosis.Semantic proximity Read ↗

Novel single nucleotide deletion in ART4 accounts for the Gy(a-) phenotype in a woman of Lebanese origin.Semantic proximity Read ↗

The wide phenotypic and genetic spectrum of ABCB4 gene deficiency: A case series.Semantic proximity Read ↗

A splicing mutation (891+4A-->G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family.Semantic proximity Read ↗

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