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

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 115-117

  Saranjam, Hamid ^a   Chopra, Sameer S ^b,c   Levy, Harvey ^c   Stubblefield, Barbara K ^a   Maniwang, Emerson ^a   Cohen, Ian J ^d,e   Baris, Hagit ^d,e   Sidransky, Ellen ^a   Tayebi, Nahid ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d RABIN MEDICAL CENTER   (Israel)

^e TEL AVIV UNIVERSITY   (Israel)

Author keywords

acute neuronopathic Gaucher disease; DNA mutational analysis; germline mutation; glucocerebrosidase; molecular diagnostic

Indexed keywords

GLUCOSYLCERAMIDASE;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE MARROW BIOPSY; DNA SEQUENCE; FAMILY; FEMALE; GASTROSTOMY; GAUCHER DISEASE; GENE MUTATION; GENETIC COUNSELING; HUMAN; INFANT; MOLECULAR DIAGNOSIS; MOSAICISM; POINT MUTATION; PRIORITY JOURNAL;

FEMALE; GAUCHER DISEASE; GERM-LINE MUTATION; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PEDIGREE;

EID: 84871207427     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.105     Document Type: Article

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