(Q28215706)

https://api.crossref.org/works/10.1002%2FHUMU.10034

Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Protein misfolding and degradation in genetic diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Clinical features of affected males with X linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Visual system anomalies in human ocular albinos

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism. Characteristic pattern of affection in female carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism. An oculocutaneous macromelanosomal disorder.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism in Blacks. Ocular albinism cum pigmento

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Ocular albinism with changes typical of carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

21 January 2018

Ocular albinism and Xg.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism: prevalence and mutations--a national study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

A high resolution deletion map of human chromosome Xp22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Ocular albinism: evidence for a defect in an intracellular signal transduction system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Linkage analysis in X-linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

OA1 mutations and deletions in X-linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Ocular albinism type 1: more than meets the eye.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked inheritance of ocular albinism with late-onset sensorineural deafness.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Refinement of the localization of the X-linked ocular albinism gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Light-induced maculopathy following penetrating keratoplasty and lens implantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Genetic counselling in X-linked ocular albinism: clinical features of the carrier state

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Sex-linked ocular albinism displaying typical fundus changes in the female heterozygote

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Macromelanosomes in X-linked ocular albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

The mouse ocular albinism 1 gene product is an endolysosomal protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10034

21 January 2018

Identifiers

DOI

10.1002/HUMU.10034

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4804216

OpenCitations bibliographic resource ID

4804216

1 reference