Work

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

Year: 2012

Type: article

Study design: Case Report

Source: European Journal of Human Genetics

DOI: 10.1038/ejhg.2012.105

Authors: Hamid Saranjam, Sameer S Chopra, Harvey Levy, Barbara K Stubblefield, Emerson Maniwang, Ian J Cohen, Hagit Baris, Ellen Sidransky, Nahid Tayebi

Institutions: National Institutes of Health, National Human Genome Research Institute, Brigham and Women's Hospital, Boston Children's Hospital, Harvard University, Tel Aviv University, Rabin Medical Center

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Human Genome Research Institute

OpenAlex ID: W1990807124

FWCI: 1.284

Cites: 23

Cited by: 19

Related to: 10