Article
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders.
European journal of human genetics : EJHG - 1 Jan 2013
Saranjam Hamid, Chopra Sameer S, Levy Harvey, Stubblefield Barbara K, Maniwang Emerson, Cohen Ian J, Baris Hagit, Sidransky Ellen, Tayebi Nahid
Abstract excerpt
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 allele and one allele that likely resulted from a maternal germline mutation. Germline mutations or mosiacism are not...
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