Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Item
http://www.wikidata.org/entity/Q41694209
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Optimization of simultaneous screening of the main mutations involved in non-syndromic deafness using the TaqMan® OpenArray™ Genotyping platformAt the speed of sound: gene discovery in the auditory systemThe deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.Connexin mutations in skin disease and hearing loss.The molecular genetics of the genodermatoses: progress to date and future directions.Prevalence of mitochondrial gene mutations among hearing impaired patientsThe genetic bases for non-syndromic hearing loss among ChineseThe 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigreesBiochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafnessPhenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.Audiological and genetic features of the mtDNA mutations.Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from MongoliaA7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma.
P2860

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness.

Item
http://www.wikidata.org/entity/Q41694209
description
1998 nî lūn-bûn
@nan
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
1998年论文
@zh
1998年论文
@zh-cn
name
Mitochondrial A7445G mutation ...... ntar keratoderma and deafness.
@en
type
label
Mitochondrial A7445G mutation ...... ntar keratoderma and deafness.
@en
prefLabel
Mitochondrial A7445G mutation ...... ntar keratoderma and deafness.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Mitochondrial A7445G mutation ...... ntar keratoderma and deafness.
@en
P2093
P304
P31
P356
10.1002/(SICI)1096-8628(19980113)75:2<179::AID-AJMG11>3.3.CO;2-1
P433
P478
P577
P698