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Clinical and Experimental Nephrology

Volumn 14, Issue 3, 2010, Pages 296-297

Antenatal diagnosis of lowe syndrome

(5) Sethi, Sidharth Kumar a Lunardi, Joel b Kabra, Madhulika a Deka, Deepika a Bagga, Arvind a

a ALL INDIA INSTITUTE OF MEDICAL SCIENCES (India)

b CHU La Tronche and University (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; GUANINE; MESSENGER RNA; PHOSPHATE; OCRL PROTEIN, HUMAN; PHOSPHATASE;

AMINOACIDURIA; CASE REPORT; CATARACT; CHILD; DEVELOPMENTAL DISORDER; GENE; GENE MUTATION; GLAUCOMA; HUMAN; HUMAN TISSUE; HYPOPHOSPHATEMIA; LETTER; LOWE SYNDROME; MALE; MENTAL DEFICIENCY; METABOLIC ACIDOSIS; MUSCLE HYPOTONIA; OCRL1 GENE; PRENATAL DIAGNOSIS; PROTEINURIA; RICKETS; FEMALE; GENETICS; PREGNANCY;

FEMALE; HUMANS; MALE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 77956635676 PISSN: 13421751 EISSN: 14377799 Source Type: Journal
DOI: 10.1007/s10157-010-0267-2 Document Type: Letter

Times cited : (4)

References (6)

1
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- Nussbaum, R.L.¹ Suchy, S.F.²

2
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3
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- Mutations in OCRL1 gene in Indian children with Lowe syndrome
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- Sethi, S.K.¹ Bagga, A.² Gulati, A.³ Hari, P.⁴ Gupta, N.⁵ Lunardi, J.⁶

4
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- Prenatal diagnosis of Lowe syndrome by OCRL1 messenger RNA analysis
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5
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- Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene
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6
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.