A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
about
Tricellulin is a tight-junction protein necessary for hearing.Deletion of Tricellulin Causes Progressive Hearing Loss Associated with Degeneration of Cochlear Hair Cells.MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.Genetic and molecular analysis of the CLDN14 gene in Moroccan family with non-syndromic hearing loss.DFNB49 is an important cause of non-syndromic deafness in Czech Roma patients but not in the general Czech population.Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
P2860
Q24337885-6D0D8A09-EDE4-4454-8854-DBA678A173CCQ27303592-E2F694C6-511F-4A1F-AB88-F38D3DB85E01Q35605938-813D7C83-1747-4381-A003-0D05026283D7Q35608563-BF6F0178-C53F-4575-B61C-6144F3992270Q36930179-55B4C1E1-FF8C-413D-BA90-69CDEA1A2E12Q37375258-79C5BAEB-493B-4404-82FE-3ACAB27E05B2Q42866330-8BFDFB9C-098D-4528-A4DC-7D4569C2F0FBQ50432450-03E40B7C-8343-4AE7-B429-7438368BB34FQ53076766-62637047-66E9-4379-A95B-3DD45CAA02CB
P2860
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
description
2004 nî lūn-bûn
@nan
2004 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@ast
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@en
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@nl
type
label
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@ast
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@en
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@nl
prefLabel
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@ast
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@en
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@nl
P2093
P1433
P1476
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
@en
P2093
Edward R Wilcox
Jamil Ahmad
Khushnooda Ramzan
Rehan S Shaikh
Saima Riazuddin
Shaheen N Khan
Sheikh Riazuddin
Thomas B Friedman
Zubair M Ahmed
P2888
P356
10.1007/S00439-004-1205-8
P577
2004-11-06T00:00:00Z
P5875
P6179
1023542055