Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
about
Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degenerationABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARCInborn errors of metabolism in the biosynthesis and remodelling of phospholipids.'RetinoGenetics': a comprehensive mutation database for genes related to inherited retinal degenerationGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.In vivo metabolite profiling as a means to identify uncharacterized lipase function: recent success stories within the alpha beta hydrolase domain (ABHD) enzyme family.Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencingMYO7A and USH2A gene sequence variants in Italian patients with Usher syndromeA review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.Mammalian alpha beta hydrolase domain (ABHD) proteins: Lipid metabolizing enzymes at the interface of cell signaling and energy metabolism.Usher syndrome in Denmark: mutation spectrum and some clinical observationsTwo novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.Systematic review of autosomal recessive ataxias and proposal for a classification.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.Molecular characterization of human ABHD2 as TAG lipase and ester hydrolase.A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids
P2860
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P2860
Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3
description
2012 nî lūn-bûn
@nan
2012年の論文
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2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
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2012年學術文章
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2012年學術文章
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name
Targeted next-generation seque ...... sed with Usher syndrome type 3
@ast
Targeted next-generation seque ...... sed with Usher syndrome type 3
@en
type
label
Targeted next-generation seque ...... sed with Usher syndrome type 3
@ast
Targeted next-generation seque ...... sed with Usher syndrome type 3
@en
prefLabel
Targeted next-generation seque ...... sed with Usher syndrome type 3
@ast
Targeted next-generation seque ...... sed with Usher syndrome type 3
@en
P2093
P2860
P50
P356
P1476
Targeted next-generation seque ...... sed with Usher syndrome type 3
@en
P2093
Ahmad Mansour
Carsten Bergmann
Christian Decker
Claudia Dafinger
Inga Ebermann
Markus Nauck
Tobias Eisenberger
P2860
P2888
P356
10.1186/1750-1172-7-59
P577
2012-09-02T00:00:00Z
P5875
P6179
1017561407