Molecular and clinical characterization of albinism in a large cohort of Italian patients.
about
Mutational analysis of oculocutaneous albinism: a compact reviewDNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDelineating the genetic heterogeneity of OCA in Hungarian patients.Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)Increasing the complexity: new genes and new types of albinism.Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.N-Ethylmaleimide-Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium.Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinismMolecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationClinical Insights Into Foveal Morphology in AlbinismMutation analysis of a Chinese family with oculocutaneous albinism.Albinism in Europe.Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism.The ophthalmic presentation of Hermansky-Pudlak syndrome 6.Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.Clinical evaluation and molecular screening of a large consecutive series of albino patients.Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.Burden of albinism: development and validation of a burden assessment tool
P2860
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P2860
Molecular and clinical characterization of albinism in a large cohort of Italian patients.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մարտին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Molecular and clinical charact ...... ge cohort of Italian patients.
@ast
Molecular and clinical charact ...... ge cohort of Italian patients.
@en
type
label
Molecular and clinical charact ...... ge cohort of Italian patients.
@ast
Molecular and clinical charact ...... ge cohort of Italian patients.
@en
prefLabel
Molecular and clinical charact ...... ge cohort of Italian patients.
@ast
Molecular and clinical charact ...... ge cohort of Italian patients.
@en
P2093
P2860
P50
P356
P1476
Molecular and clinical charact ...... ge cohort of Italian patients.
@en
P2093
Alberto Neri
Alfredo Ciccodicola
Annagiusi Gargiulo
Antonello Iovine
Claudio Macaluso
Maria Silvana Galantuomo
Sabrina Signorini
Sandro Montefusco
Settimio Rossi
Simona Fecarotta
P2860
P304
P356
10.1167/IOVS.10-6091
P407
P50
P577
2011-03-14T00:00:00Z