Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
about
Wolfram Syndrome presenting with optic atrophy and diabetes mellitus: two case reportsClinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in miceAtypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4qHighly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortionMolecular characterization of WFS1 in patients with Wolfram syndromeIdentification of a novel WFS1 homozygous nonsense mutation in Jordanian children with Wolfram syndrome.Wolfram (DIDMOAD) syndrome.
P2860
Q21198799-7873E17D-F65B-4187-896A-3FE65E9BF003Q24539201-2FDEF02D-F625-4671-8A88-8EE986018606Q28594937-C775BDA4-D833-41BB-9D24-FD9E12A3F72FQ34121020-639621F9-BC18-4E6E-B4C2-C5BEA23394EEQ34145527-1DD18913-7AB7-4363-B5C3-ABDC8FA971EDQ34390891-F3AD8F31-BBFE-466E-8814-07EE65D995ACQ35870280-3665291E-BFAF-4446-A47A-149EC0B95AD6Q39401916-31946BDA-0750-4CEB-ABCE-A40385DBA53AQ41627034-E38DF508-03DB-456B-A2E9-28ECF3F002EA
P2860
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@ast
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@en
type
label
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@ast
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@en
prefLabel
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@ast
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@en
P2093
P2860
P1476
Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion
@en
P2093
Barrientos A
Cardellach F
Casademont J
Urbano-Marquez A
P2860
P304
P407
P577
1996-05-01T00:00:00Z