Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
about
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2The eye lens cytoskeleton.Gene structure and cDNA sequence identify the beaded filament protein CP49 as a highly divergent type I intermediate filament protein.A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.Functions of the intermediate filament cytoskeleton in the eye lens.A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
P2860
Q24539165-2B2AB548-78D6-47DB-9319-917F7D27149DQ24539171-B4B2990B-E084-487A-836C-1CF9E990695CQ33812590-0ED8B4CF-B3D0-4C82-9B3E-943BC4CD2726Q34380467-F1CE3430-83C4-4ADC-8857-BC7037CDBEA9Q36950476-B904C1A5-1CAF-4960-AF82-F1EE6316AA3FQ37545190-B95FC03B-729A-4475-BEC3-5308794AEF32Q42649557-E3C83E72-D803-4E9C-9E33-6C7C7AE47EEE
P2860
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
description
1995 nî lūn-bûn
@nan
1995 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@ast
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@en
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@nl
type
label
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@ast
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@en
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@nl
prefLabel
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@ast
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@en
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@nl
P2093
P2860
P1433
P1476
Chromosomal locations of the genes for the beaded filament proteins CP 115 and CP 47.
@en
P2093
Casselman JT
FitzGerald PG
P2860
P356
10.3109/02713689508999909
P577
1995-01-01T00:00:00Z