Novel Mutation of OCRL1 in Lowe Syndrome

Indian Journal of Pediatrics

Volumn 82, Issue 1, 2015, Pages 89-92

  Liu, Ting ^a   Yue, Zhihui ^a   Wang, Haiyan ^a   Tong, Huajuan ^a   Sun, Liangzhong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

Congenital cataracts; Lowe syndrome; OCRL1; Renal tubular acidosis

Indexed keywords

BETA 2 MICROGLOBULIN; BICARBONATE; CALCITRIOL; CITRATE CALCIUM; CITRIC ACID; CREATININE; PHOSPHORUS; POTASSIUM; PROTEIN; PROTEIN OCRL1; UNCLASSIFIED DRUG; UREA; OCRL PROTEIN, HUMAN; PHOSPHATASE; PHOSPHATE; STOP CODON;

ALKALOSIS; ARTERIAL PH; ARTICLE; B SCAN; CALCIUM URINE LEVEL; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CONGENITAL CATARACT; EXON; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMERUS FRACTURE; HYPOPHOSPHATEMIC RICKETS; KIDNEY TUBULE FUNCTION; KYPHOSIS; LOWE SYNDROME; MACROSOMIA; MALE; MUSCLE HYPOTONIA; MUSCLE STRENGTH; NEPHROLITHIASIS; NYSTAGMUS; OSTEOPOROSIS; PHOSPHATE BLOOD LEVEL; PRESCHOOL CHILD; PROTEINURIA; PSYCHOMOTOR RETARDATION; SEQUENCE ANALYSIS; STOP CODON; SURGICAL TECHNIQUE; VISUAL IMPAIRMENT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOOD; CATARACT; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETIC PREDISPOSITION; GENETICS; INTELLECTUAL DISABILITY; MUTATION; OCULOCEREBRORENAL SYNDROME; PATHOPHYSIOLOGY; RENAL INSUFFICIENCY;

ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHILD, PRESCHOOL; CODON, NONSENSE; FAMILIAL HYPOPHOSPHATEMIC RICKETS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; OCULOCEREBRORENAL SYNDROME; PHOSPHATES; PHOSPHORIC MONOESTER HYDROLASES; RENAL INSUFFICIENCY;

EID: 84939885032     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-014-1581-6     Document Type: Article

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