Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

American Journal of Human Genetics

Volumn 65, Issue 1, 1999, Pages 68-76

  Satre, Véronique ^a   Monnier, Nicole ^a,b   Berthoin, Florence ^a   Ayuso, Carmen ^c   Joannard, Alain ^a   Jouk, Pierre Simon ^a   Lopez Pajares, Isidora ^d   Megabarne, André ^e   Philippe, Henri Jean ^f   Plauchu, Henri ^g   Torres, Maria Luisa ^d   Lunardi, Joel ^a,b  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b CEA GRENOBLE   (France)

^c Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e SAINT JOSEPH UNIVERSITY   (Lebanon)

^f Service de Gynécologie Obstétrique et Médecine de la Reproduction   (France)

^g HÔTEL DIEU   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDATE PHOSPHATASE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE;

ARTICLE; CLINICAL ARTICLE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE CLUSTER; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GERM LINE; HUMAN; HUMAN CELL; LOWE SYNDROME; MALE; MISSENSE MUTATION; MOSAICISM; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; X CHROMOSOME LINKED DISORDER;

EID: 0033365216     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302443     Document Type: Article

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