Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these pa...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Ogura, Hiromi, Ohga, Shouichi, Aoki, Takako, Utsugisawa, Taiju, Takahashi, Hidehiro, Iwai, Asayuki, Watanabe, Kenichiro, Okuno, Yusuke, Yoshida, Kenichi, Ogawa, Seishi, Miyano, Satoru, Kojima, Seiji, Yamamoto, Toshiyuki, Yamamoto-Shimojima, Keiko, Kanno, Hitoshi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7695726/
https://ncbi.nlm.nih.gov/pubmed/33298904
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00130-w
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