Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome

Nephrology

Volumn 17, Issue 1, 2012, Pages 20-25

  Ke, Yao Hua ^a   He, Jin Wei ^a   Fu, Wen Zhen ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

Lowe syndrome; mutation analysis; OCRL1; proximal renal tubulopathy

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DETERMINATION; DNA SEQUENCE; DONOR; EXON; FAMILY; FEMALE; GENE; GENE INSERTION; HUMAN; KIDNEY TUBULE NECROSIS; LOWE SYNDROME; MALE; MOTHER; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCRL1 GENE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SCHOOL CHILD;

ACIDOSIS, RENAL TUBULAR; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CATARACT; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRACTURES, BONE; HUMANS; HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; INTELLECTUAL DISABILITY; MALE; OCULOCEREBRORENAL SYNDROME; PEDIGREE; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84855179221     PISSN: 13205358     EISSN: 14401797     Source Type: Journal    
DOI: 10.1111/j.1440-1797.2011.01514.x     Document Type: Article

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