A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

Gaucher disease (GD) is an autosomal recessive storage disorder that most commonly results from the inheritance of one identifiable mutant glucocerebrosidase (GBA1) allele from each parent. Here, we report two cases of type 2 GD resulting from the inheritance of one identifiable paternal mutant alle...

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Detalhes bibliográficos
Main Authors: Saranjam, Hamid, Chopra, Sameer S, Levy, Harvey, Stubblefield, Barbara K, Maniwang, Emerson, Cohen, Ian J, Baris, Hagit, Sidransky, Ellen, Tayebi, Nahid
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3522207/
https://ncbi.nlm.nih.gov/pubmed/22713811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.105
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