A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
about
The molecular genetics of Marfan syndrome and related microfibrillopathiesCharacterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndromeMutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.Marfan Database (third edition): new mutations and new routines for the software.Marfan syndrome in the third Millennium.Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic ampliconsVascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationMarfan syndrome and mitral valve prolapse.Software and database for the analysis of mutations in the human FBN1 gene.Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
P2860
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P2860
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
A compound-heterozygous Marfan ...... result in a lethal phenotype.
@ast
A compound-heterozygous Marfan ...... result in a lethal phenotype.
@en
type
label
A compound-heterozygous Marfan ...... result in a lethal phenotype.
@ast
A compound-heterozygous Marfan ...... result in a lethal phenotype.
@en
prefLabel
A compound-heterozygous Marfan ...... result in a lethal phenotype.
@ast
A compound-heterozygous Marfan ...... result in a lethal phenotype.
@en
P2093
P2860
P1476
A compound-heterozygous Marfan ...... s result in a lethal phenotype
@en
P2093
L Karttunen
L Lönnqvist
L Peltonen
M Raghunath
P2860
P304
P407
P577
1994-12-01T00:00:00Z