MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

Citations & References

  • Authors: Hertz, JM; Juncker, I; Marcussen, N
  • Journal: Clinical Genetics 2008 6:522-530
  • Product Usage: Capillary Electrophoresis Systems
  • ID: PN97401
Catalog #s
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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.

Citations & References

  • Authors: Inoue Y; Nishio H; Shirakawa T; Nakanishi K; Nakamura H; Sumino K; Nishiyama K; Iijima K; Yoshikawa N
  • Journal: American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation 1999 5:854-862
  • Product Usage: AmpliTaq Gold® Reagents
  • ID: PN88831
Catalog #s
4318739
4327058
4327059
f66fd31a55d2e42686cec9ce3900c0f8_Citations

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.

Citations & References

  • Authors: Slajpah M; Gorinsek B; Berginc G; Vizjak A; Ferluga D; Hvala A; Meglic A; Jaksa I; Furlan P; Gregoric A; Kaplan-Pavlovcic S; Ravnik-Glavac M; Glavac D
  • Journal: Kidney International 2007 12:1287-1295
  • Product Usage: Capillary Electrophoresis Systems
  • ID: PN70922
Catalog #s
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4367786 Plate Info

Manual / Product Insert

Catalog #s
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4370573 Plate Info

Manual / Product Insert

Catalog #s
4370573
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Additional Document: TaqMan® Immune Profiling Array: Miscellaneous

Product Literature

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Information Card: Human and Mouse Immune Arrays

Product Literature

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Array Plate: Human Osteogenesis (XLS)

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Catalog #s
4414096
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Human Osteogenesis

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Catalog #s
4414096
4418741
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Additional Document: VariantSEQrâ„¢ Resequencing Primers: List of Available Genes: Miscellaneous

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Additional Document: Applied Biosystems 7900HT Gene Expression Immune Profiling Micro Fluidic Card Target List

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Brochure: Ion AmpliSeqâ„¢ Inherited Disease Panel Target Gene List

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A novel COLA45 splicing mutation causing Alport syndrome in a Chinese family

Citations & References

  • Authors: Tang, ZH; Dai, Y; Wang, ZH; Zhan, TL; Tan, JW; Ren, X; Liu, JY; Wang, Q; Liu, MG
  • Journal: Chinese Journal of Medical Genetics 2008 6:649-652
  • Product Usage: Capillary Electrophoresis Systems
  • ID: PN98386
Catalog #s
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