Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

@zh-cn

2015年学术文章

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2015年学术文章

@zh-my

2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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name

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@en

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@nl

type

Item

label

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@en

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@nl

prefLabel

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@en

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@nl

P1476

Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.

@en

P2093

Akiko Sugaya

http://www.w3.org/2001/XMLSchema#string

Hidekane Yoshimura

http://www.w3.org/2001/XMLSchema#string

Kunihiro Fukushima

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Shin-Ichi Usami

http://www.w3.org/2001/XMLSchema#string

Takao Hashimoto

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Toshinori Murata

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P2860

Identification of PEX7 as the second gene involved in Refsum disease

A neuroectodermal syndrome of dominant inheritance

Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism.

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1

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

Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.

Genetics and pathological mechanisms of Usher syndrome.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

A novel Refsum-like disorder that maps to chromosome 20.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

P304

77S-83S

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P31

scholarly article

P356

10.1177/0003489415574513

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P478

124 Suppl 1

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P50

Shin-Ya Nishio

P577

2015-03-05T00:00:00Z

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P5875

273147365

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P698

25743180

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