A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome

Tohoku Journal of Experimental Medicine

Volumn 232, Issue 3, 2014, Pages 163-166

  Sugimoto, Keisuke ^a   Nishi, Hitomi ^a   Miyazawa, Tomoki ^a   Fujita, Shinsuke ^a   Okada, Mitsuru ^a   Takemura, Tsukasa ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Clinical phenotype; Dent 2; Lowe syndrome; Novel mutation; Oculocerebrorenal syndrome of Lowe

Indexed keywords

GENOMIC DNA; LACTATE DEHYDROGENASE;

ADULT; ARTICLE; BETA 2 MICROGLOBULIN URINE LEVEL; CASE REPORT; CELL INFILTRATION; CONGENITAL CATARACT; ENZYME ACTIVITY; EXON; FIBROSING ALVEOLITIS; FOLLOW UP; GENE; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; LOWE SYNDROME; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MONONUCLEAR CELL; NUCLEOTIDE SEQUENCE; OCRL1 GENE; PHENOTYPE; PHYSICAL EXAMINATION; PROLIFERATIVE GLOMERULONEPHRITIS; PROTEINURIA; SHORT STATURE;

ADOLESCENT; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OCULOCEREBRORENAL SYNDROME; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; PREGNANCY;

EID: 84896477932     PISSN: 00408727     EISSN: 13493329     Source Type: Journal    
DOI: 10.1620/tjem.232.163     Document Type: Article

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