Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA

Nephron - Clinical Practice

Volumn 124, Issue 1-2, 2013, Pages 31-37

  Thong, Kah Mean ^a,b   Xu, Yaoxian ^a   Cook, Jackie ^c   Takou, Anna ^b   Wagner, Bart ^b   Kawar, Bisher ^b   Ong, Albert C M ^a,b  

^a Academic Unit of Haematology   (United Kingdom)

^b SHEFFIELD TEACHING HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Focal segmental glomerulosclerosis; Lamins A and C; Lipodystrophy; LMNA

Indexed keywords

PREDNISOLONE; LAMIN A; LAMIN C;

ADULT; AORTA VALVE REGURGITATION; ARTICLE; CARDIOMYOPATHY; CASE REPORT; ECHOCARDIOGRAPHY; EXON; FAMILIAL PARTIAL LIPODYSTROPHY; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GLOMERULAR STRUCTURE; GLOMERULUS FILTRATION RATE; HEARING AID; HEARING IMPAIRMENT; HEART ATRIUM FIBRILLATION; HEART ATRIUM FLUTTER; HUMAN; HYPERTENSION; KIDNEY BIOPSY; KIDNEY FUNCTION; LMNA GENE; MALE; MEDICAL HISTORY; MITRAL VALVE PROLAPSE; MITRAL VALVE REGURGITATION; NUCLEAR LAMINA; PEDIGREE; PRIORITY JOURNAL; PROTEINURIA; CLINICAL FEATURE; FAMILY; GENE EXPRESSION REGULATION; GENETIC ASSOCIATION; HUMAN TISSUE;

ADULT; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; LAMIN TYPE A; LIPODYSTROPHY, FAMILIAL PARTIAL; MALE; MUTATION; PEDIGREE;

EID: 84890490290     PISSN: None     EISSN: 16602110     Source Type: Journal    
DOI: 10.1159/000354716     Document Type: Article

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