OCRL1 mutation analysis in french lowe syndrome patients: Implications for molecular diagnosis strategy and genetic counseling

Human Mutation

Volumn 16, Issue 2, 2000, Pages 157-165

  Monnier, Nicole ^a   Satre, Véronique ^a   Lerouge, Eliane ^a   Berthoin, Florence ^a   Lunardi, Joël ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

Germline mosaicism; Lowe oculocerebrorenal syndrome; OCRL1

Indexed keywords

COMPLEMENTARY DNA; DNA; RNA;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL CATARACT; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; LOWE SYNDROME; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 0033860781     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200008)16:2<157::AID-HUMU8>3.0.CO;2-9     Document Type: Article

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