|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
|
24522658 |
2014 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical utility gene card for: Alport syndrome.
|
22166944 |
2012 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
|
11223851 |
2001 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutational analysis of COL4A5 gene in Korean Alport syndrome.
|
10684360 |
2000 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
|
11004279 |
2000 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
|
10862091 |
2000 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.
|
10563487 |
1999 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of mutations in COL4A5 in patients with Alport syndrome.
|
10094548 |
1999 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
|
10561141 |
1999 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
|
9848783 |
1998 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
|
9452056 |
1998 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.
|
9150741 |
1997 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
|
8829632 |
1996 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
|
8651296 |
1996 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
|
8940267 |
1996 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
|
7599631 |
1995 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
|
7853788 |
1994 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
|
8406498 |
1993 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.
|
1376965 |
1992 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.
|
1352287 |
1992 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Single base mutation in alpha 5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome.
|
1672282 |
1991 |
|
ALPORT SYNDROME 1, X-LINKED
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|