- Tytuł :
- Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
- Autorzy :
- Temat :
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Cobalamin C deficiency (cblC)
The MMACHC gene
C.609G > A
Methylmalonic acidemia and homocysteinemia
Medicine - Źródło :
- Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
- Opis pliku :
- electronic resource
- Relacje :
- http://link.springer.com/article/10.1186/s13023-020-01485-7; https://doaj.org/toc/1750-1172
- Dostęp URL :
- https://doaj.org/article/bab1b2af79f54981bd3de6a782a70744
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Czasopismo naukowe