Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
about
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.A Challenging Form of Non-autoimmune Insulin-Dependent Diabetes in a Wolfram Syndrome Patient with a Novel Sequence Variant.Identification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.
P2860
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Identification of homozygous W ...... irst report of male fertility.
@ast
Identification of homozygous W ...... irst report of male fertility.
@en
type
label
Identification of homozygous W ...... irst report of male fertility.
@ast
Identification of homozygous W ...... irst report of male fertility.
@en
prefLabel
Identification of homozygous W ...... irst report of male fertility.
@ast
Identification of homozygous W ...... irst report of male fertility.
@en
P2093
P2860
P356
P1476
Identification of homozygous W ...... first report of male fertility
@en
P2093
Alireza Haghighi
Amirreza Haghighi
Aria Setoodeh
Dewi Astuti
Nasrollah Saleh-Gohari
P2860
P2888
P304
P356
10.1038/EJHG.2012.154
P577
2012-07-11T00:00:00Z