Article

Patient with X-linked phenotype of SCID, markedly skewed maternal X-inactivation, but normal common gamma chain (CD132) gene ORF sequence

2012-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1c29acca-175b-58d8-971c-9e57e2dbe5b0
DOI: 10.1186/1710-1492-8-s1-a24
PMCID: PMC3487828

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Patient with X-linked phenotype of SCID, markedly skewed maternal X-inactivation, but normal common gamma chain (CD132) gene ORF sequenceDOI 10.1186/1710-1492-8-s1-a24Read

IL2RGbase: a database of gamma c-chain defects causing human X-SCID.Semantic proximity Read

X-linked lymphoproliferative disease with a novel SH2D1A gene mutation.Semantic proximity Read

A novel pathogenic SH2D1A mutation for X-linked lymphoproliferative syndrome type 1.Semantic proximity Read

Genetics of SCID.Semantic proximity Read

Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)Semantic proximity Read

Skewed X-Chromosome Inactivation Is Common in Fetuses or Newborns Associated with Confined Placental MosaicismSemantic proximity Read

An intron c.149-2632T>A change in RHD is associated with aberrant transcription and very weak D phenotype.Semantic proximity Read

A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21.Semantic proximity Read

In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)Semantic proximity Read

Molecular genetic and cytogenetic characterization of a partial Xp duplication and Xq deletion in a patient with premature ovarian failureSemantic proximity Read

Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses.Semantic proximity Read

Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Semantic proximity Read