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The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseases.
Hamza, Abderaouf; El-Sissy, Carine; Yousfi, Nadhir; Martins, Paula Vieira; Rafat, Cédric; Masliah-Planchon, Julien; Frémeaux-Bacchi, Véronique; Mesnard, Laurent.
Affiliation
  • Hamza A; Department of Genetics, Institut Curie, PSL Research University, Paris, France.
  • El-Sissy C; Department of Biological Immunology, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Yousfi N; Unité Mixte de Recherche S1155, Institut National de la Santé et de la Recherche Médicale (INSERM), Paris, France.
  • Martins PV; Department of Biological Immunology, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Rafat C; Service de Soins Intensifs Néphrologiques et Rein Aigu (SINRA), French Intensive Renal Network, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Masliah-Planchon J; Faculté de Médecine, Sorbonne Université, Paris, France.
  • Frémeaux-Bacchi V; Department of Genetics, Institut Curie, PSL Research University, Paris, France.
  • Mesnard L; Department of Biological Immunology, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France.
Eur J Hum Genet ; 31(7): 730-732, 2023 07.
Article in En | MEDLINE | ID: mdl-37032353
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Complement Factor H / Genetic Predisposition to Disease Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Complement Factor H / Genetic Predisposition to Disease Type of study: Diagnostic_studies Limits: Humans Language: En Journal: Eur J Hum Genet Journal subject: GENETICA MEDICA Year: 2023 Document type: Article Affiliation country: Country of publication: