A carregar...
S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency: Two Novel Mutations with Lethal Outcome
This paper reports studies of two novel, allelic missense mutations found in the S-adenosylhomocysteine hydrolase (AHCY) gene from a new case of AHCY deficiency in an infant girl who died at age four months. The mutations lead to replacement of arginine with cysteine (p.Arg49Cys) and aspartic acid w...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2009
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2876820/ https://ncbi.nlm.nih.gov/pubmed/19177456 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20985 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|