Prenatal diagnosis of Niemann-Pick diseases types A, B and C

Prenatal Diagnosis

Volumn 22, Issue 7, 2002, Pages 630-632

  Vanier, Marie T ^a,b  

^a INSERM   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Mutation analysis; Niemann Pick disease; NPC1; NPC2; Prenatal diagnosis; Sphingomyelinase

Indexed keywords

CHOLESTEROL; SPHINGOMYELIN PHOSPHODIESTERASE; CARRIER PROTEIN; GLYCOPROTEIN; MEMBRANE PROTEIN; NPC1 PROTEIN, HUMAN; NPC2 PROTEIN, HUMAN;

ARTICLE; CHOLESTEROL METABOLISM; GENE MUTATION; HUMAN; MUTATIONAL ANALYSIS; NIEMANN PICK DISEASE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; ADULT; CELL CULTURE; ENZYMOLOGY; FEMALE; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PREGNANCY; REVIEW;

ADULT; CARRIER PROTEINS; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCOPROTEINS; HUMAN; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASES; PREGNANCY; PRENATAL DIAGNOSIS; SPHINGOMYELIN PHOSPHODIESTERASE; HUMANS;

EID: 0035990150     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.368     Document Type: Article

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