Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
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TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndromeA synonymous genetic alteration of LMX1B in a family with nail-patella syndromeNovel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucomaIn vivo expression of putative LMX1B targets in nail-patella syndrome kidneysInsight into podocyte differentiation from the study of human genetic disease: nail-patella syndrome and transcriptional regulation in podocytesGenotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathyIdentification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manPhenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndromeThe aetiology of idiopathic Parkinson's diseaseMissense mutations of human homeoboxes: A review.Molecular nature of 11 spontaneous de novo mutations in Drosophila melanogaster.A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.Nail patella syndrome: a review of the phenotype aided by developmental biologyNail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity.Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.An expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.Nail patella syndrome revisited: 50 years after linkage.Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.Why study human limb malformations?Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
P2860
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P2860
Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
Restricted distribution of los ...... ail-patella syndrome patients.
@en
Restricted distribution of los ...... ail-patella syndrome patients.
@nl
type
label
Restricted distribution of los ...... ail-patella syndrome patients.
@en
Restricted distribution of los ...... ail-patella syndrome patients.
@nl
prefLabel
Restricted distribution of los ...... ail-patella syndrome patients.
@en
Restricted distribution of los ...... ail-patella syndrome patients.
@nl
P2093
P2860
P1433
P1476
Restricted distribution of los ...... ail-patella syndrome patients.
@en
P2093
Hamlington JD
McIntosh I
P2860
P304
P356
10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9
P577
1999-01-01T00:00:00Z