Mutations in OCRL1 gene in Indian children with Lowe syndrome

Clinical and Experimental Nephrology

Volumn 12, Issue 5, 2008, Pages 358-362

  Sethi, Sidharth Kumar ^a   Bagga, Arvind ^a   Gulati, Ashima ^a   Hari, Pankaj ^a   Gupta, Neerja ^a   Lunardi, Joel ^b  

^a ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^b CHU La Tronche and University   (France)

Author keywords

OCRL1 gene; Oculocerebrorenal syndrome; Renal tubular acidosis

Indexed keywords

GENOMIC DNA; PROTEIN OCRL1; SYNAPTOJANIN; UNCLASSIFIED DRUG;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONTROLLED STUDY; DNA DETERMINATION; EXON; FRAMESHIFT MUTATION; GLOMERULUS; HETEROZYGOTE DETECTION; HUMAN; INDIAN; INTRON; KIDNEY FUNCTION TEST; KIDNEY TUBULE FUNCTION; LABORATORY TEST; LOWE SYNDROME; MALE; MISSENSE MUTATION; MOTHER; NONSENSE MUTATION;

CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FRAMESHIFT MUTATION; GENETIC COUNSELING; HUMANS; INDIA; MALE; MUTATION, MISSENSE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PRENATAL DIAGNOSIS;

EID: 51849147881     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-008-0059-0     Document Type: Article

References (11)

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