A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas...

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Vydáno v:Hum Genome Var
Hlavní autoři: Fu, Xue J, Morisada, Naoya, Hashimoto, Fusako, Taniguchi-Ikeda, Mariko, Hashimura, Yuya, Ohtsubo, Hiromi, Ninchoji, Takeshi, Kaito, Hiroshi, Nozu, Kandai, Takahashi, Eihiko, Nakanishi, Koichi, Kurahashi, Hiroki, Iijima, Kazumoto
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2014
Témata:
Data Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785521/
https://ncbi.nlm.nih.gov/pubmed/27081500
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.6
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