Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
about
Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutationsThe nature and biology of basement membranes.Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree.
P2860
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
@en
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
@nl
type
label
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
@en
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
@nl
prefLabel
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
@en
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome.
@nl
P2093
P2860
P1433
P1476
Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome
@en
P2093
Elisandra Gava
Erika Kague
Gisele de Oliveira
Glaucius Oliva
Gregory Kitten
Hongmin Tu
Kelly Bagatini
Lorenza Carvalhaes
Maria-Rita Passos-Bueno
Oscar Suzuki
P2860
P304
P577
2009-04-23T00:00:00Z