Nail patella syndrome revisited: 50 years after linkage.
about
c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucomaA microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-functionClinico-genetic study of nail-patella syndromeLMX1B mutations cause hereditary FSGS without extrarenal involvementKidney disease in nail-patella syndromeThe signaling pathways of LMX1B and its role in glomerulosclerosis.Identification of LMX1B as a novel oncogene in human ovarian cancer.Radiographic findings in the nail-patella syndrome.An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents
P2860
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P2860
Nail patella syndrome revisited: 50 years after linkage.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
Nail patella syndrome revisited: 50 years after linkage.
@en
Nail patella syndrome revisited: 50 years after linkage.
@nl
type
label
Nail patella syndrome revisited: 50 years after linkage.
@en
Nail patella syndrome revisited: 50 years after linkage.
@nl
prefLabel
Nail patella syndrome revisited: 50 years after linkage.
@en
Nail patella syndrome revisited: 50 years after linkage.
@nl
P2093
P2860
P1476
Nail patella syndrome revisited: 50 years after linkage.
@en
P2093
I McIntosh
J A Dunston
J E Hoover-Fong
P2860
P304
P356
10.1111/J.1529-8817.2005.00191.X
P407
P577
2005-07-01T00:00:00Z