Add to ORKGWe observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and mental retardation and carried a large deletion of the Xq22.3-q23 region, encompassing the COL4A5 gene. This suggests the possibility of a new contiguous gene syndrome. In an attempt to characterize the genes contributing to this complex phenotype, we have isolated a gene encoding a new long-chain acyl-CoA synthetase (FACL4 or LACS4) from the region deleted in these patients. Among several ESTs identified by searching the human gene map database maintained at the National Center for Biotechnology Information, using the map position as a query, only one was deleted in the patients. RACE products containing the entire ORF were subsequently generate...
We have identified a novel missense transition (362G-->A) in exon 3 of the COL4A5 gene in a male pat...
Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells. Using...
Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal...
We observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and ment...
Item does not contain fulltextX-linked mental retardation (XLMR) is an inherited condition that caus...
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitiv...
Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving s...
We recently described a novel contiguous gene deletion syndrome (AMME) in Xq22.3 that includes Alpor...
We describe a family with four members, a mother, two sons, and a daughter, who show clinical featur...
AbstractThe interaction of the adrenoleukodystrophy protein (ALDP), mutated in the peroxisomal disor...
The contiguous gene deletion syndrome AMME is characterized by Alport syndrome, midface hypoplasia, ...
Deletions of the COL4A5 gene in patients with Alport syndrome. Mutations in the COL4A5 gene encoding...
The contiguous gene deletion syndrome AMME is characterized by Alport syndrome, midface hypoplasia, ...
We have identified a novel missense transition (362G-->A) in exon 3 of the COL4A5 gene in a male pat...
Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells. Using...
Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal...
We observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and ment...
Item does not contain fulltextX-linked mental retardation (XLMR) is an inherited condition that caus...
X-linked mental retardation (XLMR) is an inherited condition that causes failure to develop cognitiv...
Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving s...
We recently described a novel contiguous gene deletion syndrome (AMME) in Xq22.3 that includes Alpor...
We describe a family with four members, a mother, two sons, and a daughter, who show clinical featur...
AbstractThe interaction of the adrenoleukodystrophy protein (ALDP), mutated in the peroxisomal disor...
The contiguous gene deletion syndrome AMME is characterized by Alport syndrome, midface hypoplasia, ...
Deletions of the COL4A5 gene in patients with Alport syndrome. Mutations in the COL4A5 gene encoding...
The contiguous gene deletion syndrome AMME is characterized by Alport syndrome, midface hypoplasia, ...
We have identified a novel missense transition (362G-->A) in exon 3 of the COL4A5 gene in a male pat...
Mutations in the COL4A5 gene in Alport syndrome: A possible mutation in primordial germ cells. Using...
Alport syndrome (AS), a hereditary type IV collagen nephropathy, is a major cause of end-stage renal...