Results for:
"
Mutation%22
" in Documents
- OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutat...
- The truncating R254X mutation in the OCTN2 gene results in defective high-affinity carnitine transport and has been previously described as a founder mutation in the Chinese population. We now report ...
-
Rating:
Views: (3)
Pages: ()
Uploaded: 2004-8-11
- TCOF1 mutation database: novel mutation in the alternatively spliced e...
- Recently, a novel exon was described in TCOF1 that, although alternatively spliced, is included in the major protein isoform. In addition, most published mutations in this gene do not conform to curre...
-
Rating:
Views: ()
Pages: ()
Uploaded: 2005-4-16
- Mutation analysis of phenylketonuria patients from Morocco: High preva...
- OBJECTIVE:: The knowledge of the molecular basis of the Phenylketonuria (PKU, MIM# 261600) in different countries provides relevant information for undertaking specific and rational mutation detection...
-
Rating:
Views: (1)
Pages: ()
Uploaded: 2009-9-30
- Characterization of acute myeloid leukemia with PTPN11 mutation: the m...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 2007-11-2
- A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans ...
- A deletion of at least 140 kb starting approximately 35kb upstream (telomeric) to the GJB2 (CX26) gene was identified in 7 patients from 4 unrelated Jewish Ashkenazi families with non-syndromic hearin...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 2001-10-23
- A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a found...
- A deletion mutation of 8.6Kb in the CFTR gene, spanning the exons 17a, 17b and 18 was identified in 4 homozygous unrelated Palestinian CF patients. The patients were of various ethnic subgroups includ...
-
Rating:
Views: (2)
Pages: ()
Uploaded: 1999-4-29
- Spontaneous mutation in Big Blue mice from fetus to old age: tissue-sp...
- Transgenic mouse mutation detection systems permit rapid determination of the frequency and type of mutations allowing direct examination of mutational markers for aging, neurodegeneration, and cancer...
-
Rating:
Views: (1)
Pages: ()
Uploaded: 2004-3-3
- Ten years after mutation testing for Lynch syndrome: cancer incidence ...
- PURPOSE: Colonoscopies with polypectomies and endometrial biopsies with transvaginal ultrasonography, repeated at 2- to 3-year intervals, are performed for prevention or early detection of cancer in p...
-
Rating:
Views: (1)
Pages: ()
Uploaded: 2009-10-27