Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Joyce C. Denison"'
Publikováno v:
American Journal of Medical Genetics. 98:148-160
We have performed effective mutation screening of COL4A5 with a new method of direct, multiplex genomic amplification that employs a single buffer condition and PCR profile. Application of the method to a consecutive series of 46 United States patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54396d2547d3e9edf065c29abff6ea6a
https://doi.org/10.1002/1096-8628(20010115)98:2<148::aid-ajmg1024>3.0.co
https://doi.org/10.1002/1096-8628(20010115)98:2<148::aid-ajmg1024>3.0.co
Autor:
Curtis L. Atkin, Joyce C. Denison, Yoav Segal, Yoshikazu Sado, Satoshi Sasaki, Yoshifumi Ninomiya, Clifford E. Kashtan, David F. Barker, Martin C. Gregory, Jing Zhou, Youngki Kim, Bing Zhou, Alfred F. Michael, Wei Wei Fan
Publikováno v:
Matrix Biology. 17:279-291
COL4A5 mutations causing X-linked Alport syndrome (XLAS) are frequently associated with absence of the alpha3, alpha4,alpha5 and alpha6 chains of type IV collagen from basement membranes and increased amounts of the alpha1(IV) and alpha2(IV) chains i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::151b10315fc7b87163723a2b32447d44
https://doi.org/10.1016/s0945-053x(98)90081-6
https://doi.org/10.1016/s0945-053x(98)90081-6
Autor:
Elaine Lyon, Martin C. Gregory, Joyce C. Denison, Kelli Sumner, Chris Miller, Genevieve Pont-Kingdon, Friederike Gedge
Publikováno v:
BMC Nephrology
BMC Nephrology, Vol 10, Iss 1, p 38 (2009)
BMC Nephrology, Vol 10, Iss 1, p 38 (2009)
Background Alport syndrome (AS) is a progressive renal disease with cochlear and ocular involvement. The majority of AS cases are X-linked (XLAS) and due to mutations in the COL4A5 gene. Although the disease may appear early in life and progress to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13ca24485cf9be7eeed79bad3af866a3
https://pubmed.ncbi.nlm.nih.gov/19919694
https://pubmed.ncbi.nlm.nih.gov/19919694
Publikováno v:
Human genetics. 99(5)
Mutations in the basement membrane collagen gene COL4A5 cause the progressive renal glomerular nephropathy and typical hearing loss that occur in X-linked Alport syndrome. Nearly all cases involve distinct mutations, as expected for an X-linked disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8785b13b856bebfc6af8b19cf850718d
https://pubmed.ncbi.nlm.nih.gov/9150741
https://pubmed.ncbi.nlm.nih.gov/9150741