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

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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Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: Nature Publishing Group 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785521/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785521/

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