Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome

doi:10.1006/geno.1997.4734

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Article

Identification, Characterization, and Precise Mapping of a Human Gene Encoding a Novel Membrane-Spanning Protein from the 22q11 Region Deleted in Velo–Cardio–Facial Syndrome

1 Jun 1997

Abstract excerpt

Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) are characterized by a wide spectrum of phenotypes including cleft palate, conotruncal heart defects, and facial dysmorphology. Hemizygosity for a portion of chromosome 22q11 has been detected in 80-85% of VCFS/DGS patients. Using a cDNA selection protocol, we have identified a new gene, TMVCF (transmembrane protein deleted in VCFS), which maps to the...

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PMID: 9192844
DOI: 10.1006/geno.1997.4734

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