Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis (notice n° 135650)
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| fixed length control field | 01887cam a2200253 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250112021351.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Amri, Yessine |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2023.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 26 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significantly reduced or even complete absence of human serum albumin. Our data describes the clinical features and laboratory results of a case confirmed by mutation analysis of the albumin gene in a 35-year-old man presenting recurrent acute coronary syndrome. To the best of our knowledge, only two cases of coronary artery disease have been reported worldwide without recurrence. Our findings contribute to shedding light on the clinical characteristics and biochemical parameters of this disease and confirm that cardiovascular complications must be taken seriously in this pathology. Mutational screening disclosed two novel compound heterozygous nucleotide variations located in intron 12 and in 3’UTR. The prediction of the functional and structural impact of the reported variations using different bioinformatics tools demonstrates that these genetic variations affect RNA transcription and mRNA folding. |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aboulkacem, Sana |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dabboubi, Rym |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ayoub, Manel |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lamine, Oussema |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Othmani, Mariem |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aouni, Zied |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Messaoud, Taieb |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazigh, Chakib |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | Annales de Biologie Clinique | 81 | 2 | 2023-03-01 | p. 204-209 | 0003-3898 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/journal-annales-de-biologie-clinique-2023-2-page-204?lang=en">https://shs.cairn.info/journal-annales-de-biologie-clinique-2023-2-page-204?lang=en</a> |
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