In one family, a homozygous deletion of exon 4 could be demonstrated.

Co-deletion was most common, but exon 2-specific homozygous deletion was also detected.

In contrast, homozygous deletion of the NRC gene is embryonic lethal.

We studied a homozygous deletion in the lipoprotein lipase gene at the molecular level.

Conclusions: We identified a novel homozygous deletion in DDB2 gene in Chinese XP-E patients having unique clinical features.

These findings suggest that homozygous deletion or reduced expression of MKK4 may contribute to the development of ovarian serous carcinoma.

Analysis for a homozygous deletion of the NPHP1 gene was performed by polymerase chain reaction on the genomic DNA of all patients.

Using an optimized platform, we provide the relative sensitivities of the heterozygous and homozygous deletion collections for nearly 1800 biologically active compounds.

We found that specific homozygous deletion of Sox4 in the adult prostate epithelium strongly inhibited tumor progression initiated by homozygous loss of Pten.

Poor prognostic factors in conventional therapies, such as concomitant homozygous deletion of CDKN2A, were not associated with lack of response to BRAF inhibition.

Despite an exon 6 homozygous deletion of LMF1, the patient's highly variable lipid phenotype was suggestive of MCS diagnosis.

Thus, it is likely that the homozygous deletion observed in these cancer cell lines harbors an important tumor suppressor gene for several tumor types.

We compared the prevalence of the GSTM1 homozygous deletion polymorphism in 158 Caucasian adults with gliomas with 157 controls.

The genetic analysis indicated that the patient had a large homozygous deletion in LDL receptor gene including the exons 7-14.

We found that homozygous deletion mutants of CPAR2_603600 showed defects under low-iron conditions and were also sensitive to various stressors.

CDKN2A studies by fluorescence in situ hybridization (performed in 31 cases) found no homozygous deletion of that gene in any case.