Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

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Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

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2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

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Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

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prefLabel

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

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P1476

Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

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P2093

Ahmed Aziz Bousfiha

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Ayoub Aglaguel

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Christoph Klein

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Fatima Ailal

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Houria Abdelghaffar

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Naschla Kohistani

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Norddine Habti

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Sebastian Hesse

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P2860

Rothmund-Thomson syndrome

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification

Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia

Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.

The spliceosome: design principles of a dynamic RNP machine

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

P2888

s10875-017-0385-7

P304

357-362

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P31

scholarly article

P356

10.1007/S10875-017-0385-7

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P433

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P478

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P577

2017-03-28T00:00:00Z

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P6179

1084027685

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P698

28353165

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P921

Eʼeʼaahjí Ghą́ą́ʼaskʼidii Biłikahii Bikéyah