Intrauterine onset of acute neuropathic type 2 Gaucher disease: Identification of a novel insertion sequence

American Journal of Medical Genetics

Volumn 128 A, Issue 2, 2004, Pages 138-143

  Felderhoff Mueser, Ursula ^a   Uhl, Johannes ^b   Penzel, Roland ^b   Van Landeghem, Frank ^a   Vogel, Martin ^a   Obladen, Michael ^a   Kopitz, Jürgen ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Gaucher disease; Glucocerebrosidase; Lysosomal; Novel mutation; Transheterozygous

Indexed keywords

ADENINE; ARGININE; BETA GLUCOSIDASE; GLUTAMINE; GUANINE;

ACUTE NEUROPATHIC GAUCHER DISEASE; AMINO ACID SUBSTITUTION; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; BRAIN DEGENERATION; CASE REPORT; CAUCASIAN; CELL; ENZYME ACTIVITY; FETUS DEATH; FETUS HYDROPS; FIBROBLAST; GAUCHER CELL; GAUCHER DISEASE; GENE INSERTION; GENE SEQUENCE; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIVER FAILURE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROPATHY; NEWBORN; NEWBORN DEATH; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; ONSET AGE; POLYMERASE CHAIN REACTION; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; RESPIRATORY DISTRESS; RESTRICTIVE DERMOPATHY; SEMINESTED POLYMERASE CHAIN REACTION; SKIN DISEASE;

AGE OF ONSET; APOPTOSIS; ARTHROGRYPOSIS; AUTOPSY; BASE SEQUENCE; BRAIN; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, COMPLEMENTARY; EOSINOPHILS; FEMALE; FIBROBLASTS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HETEROZYGOTE; HUMANS; LIVER FAILURE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONS; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY; PREMATURE BIRTH; RNA; SEQUENCE HOMOLOGY, NUCLEIC ACID; TIME FACTORS;

HYDROPS; INSERTION SEQUENCES; UNIDENTIFIED INSERTION SEQUENCE;

EID: 4444313668     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20445     Document Type: Article

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