Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: Identification and expression of a novel acid β-glucosidase mutation

American Journal of Medical Genetics

Volumn 84, Issue 4, 1999, Pages 334-339

  Wasserstein, Melissa P ^a,d   Martignetti, John A ^a   Zeitlin, Robert ^b   Lumerman, Harry ^a   Solomon, Marshall ^c   Grace, Marie E ^a   Desnick, Robert J ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b KINGSBROOK JEWISH MEDICAL CENTER   (United States)

^c SUNY DOWNSTATE MEDICAL CENTER   (United States)

^d MOUNT SINAI MEDICAL CENTER   (United States)

Author keywords

Gaucher; Genotype; Mandible; P401L missense mutation

Indexed keywords

GLUCOSYLCERAMIDASE;

ADULT; ARTICLE; BONE DISEASE; CASE REPORT; FEMALE; GAUCHER DISEASE; GENE EXPRESSION; GENOTYPE; HEPATOSPLENOMEGALY; HUMAN; MANDIBLE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOLYSIS; PHENOTYPE; PRIORITY JOURNAL;

BETA-GLUCOSIDASE; CHILD; FEMALE; GAUCHER DISEASE; HUMANS; IMMUNOBLOTTING; MANDIBULAR DISEASES; MUTATION, MISSENSE;

EID: 0033522793     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990604)84:4<334::AID-AJMG5>3.0.CO;2-P     Document Type: Article

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