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Volumn 26, Issue 6, 2011, Pages 967-971

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

Author keywords

Cystic kidney; Disease; Nephronophthisis; NPHP1

Indexed keywords

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 2; CLINICAL FEATURE; CONSANGUINITY; DOMINANT INHERITANCE; ECHOGRAPHY; FAMILY HISTORY; FEMALE; GENE; GENE DELETION; HAPLOTYPE; HEMODIALYSIS; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY TRANSPLANTATION; LABORATORY TEST; MALE; NEPHRONOPHTHISIS; NPHP1 GENE; OPHTHALMOLOGY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; ULTRASOUND;

EID: 79960025388     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-1761-9     Document Type: Article
Times cited : (24)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.