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

Hiromi Ogura, Shouichi Ohga, Takako Aoki, Taiju Utsugisawa, Hidehiro Takahashi, Asayuki Iwai, Kenichiro Watanabe, Yusuke Okuno, Kenichi Yoshida, Seishi Ogawa, Satoru Miyano, Seiji Kojima, Toshiyuki Yamamoto, Keiko Yamamoto-Shimojima, Hitoshi Kanno

研究成果: Contribution to journalArticle査読

抄録

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 patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued.

本文言語英語
論文番号42
ジャーナルHuman Genome Variation
7
1
DOI
出版ステータス出版済み - 12 2020

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

フィンガープリント 「Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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