about
A 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.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.Nail-patella syndrome: report of 11 pediatric cases.
P2860
description
article científic
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article scientifique
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articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 28 January 2009
@en
vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Clinico-genetic study of nail-patella syndrome
@en
Clinico-genetic study of nail-patella syndrome.
@nl
type
label
Clinico-genetic study of nail-patella syndrome
@en
Clinico-genetic study of nail-patella syndrome.
@nl
prefLabel
Clinico-genetic study of nail-patella syndrome
@en
Clinico-genetic study of nail-patella syndrome.
@nl
P2093
P2860
P1476
Clinico-genetic study of nail-patella syndrome
@en
P2093
Beom Hee Lee
Hae Il Cheong
Hee Kyung Kang
Hyun Jin Choi
In Seok Lim
Yong-Hoon Park
P2860
P356
10.3346/JKMS.2009.24.S1.S82
P478
P50
P577
2009-01-28T00:00:00Z