| 000 | 01887cam a2200253 4500500 | ||
|---|---|---|---|
| 005 | 20250112021351.0 | ||
| 041 | _afre | ||
| 042 | _adc | ||
| 100 | 1 | 0 |
_aAmri, Yessine _eauthor |
| 700 | 1 | 0 |
_a Aboulkacem, Sana _eauthor |
| 700 | 1 | 0 |
_a Dabboubi, Rym _eauthor |
| 700 | 1 | 0 |
_a Ayoub, Manel _eauthor |
| 700 | 1 | 0 |
_a Lamine, Oussema _eauthor |
| 700 | 1 | 0 |
_a Othmani, Mariem _eauthor |
| 700 | 1 | 0 |
_a Aouni, Zied _eauthor |
| 700 | 1 | 0 |
_a Messaoud, Taieb _eauthor |
| 700 | 1 | 0 |
_a Mazigh, Chakib _eauthor |
| 245 | 0 | 0 | _aCongenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis |
| 260 | _c2023. | ||
| 500 | _a26 | ||
| 520 | _aCongenital 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. | ||
| 786 | 0 | _nAnnales de Biologie Clinique | 81 | 2 | 2023-03-01 | p. 204-209 | 0003-3898 | |
| 856 | 4 | 1 | _uhttps://shs.cairn.info/journal-annales-de-biologie-clinique-2023-2-page-204?lang=en |
| 999 |
_c135650 _d135650 |
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