(Q78761198)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

title

Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

oculocutaneous albinism type 1

16 December 2019

main subject

1 reference

1 reference

Richard A King

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Jacy Pietsch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

James P Fryer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Sarah Savage

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Marcia J Brott

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

Isabelle Russell-Eggitt

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

C Gail Summers

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

William S Oetting

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

publication date

10 September 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

volume

113

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

16 December 2019

page(s)

502-513

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:13680365%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00439-003-0998-1

16 December 2019

exact match

0 references

cites work

Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene

1 reference

12 December 2020

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

1 reference

12 December 2020

A locus control region at -12 kb of the tyrosinase gene

1 reference

12 December 2020

Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism

1 reference

12 December 2020

Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism

1 reference

12 December 2020

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

1 reference

12 December 2020

Influence of MHC and MHC-linked genes on reproduction

1 reference

12 December 2020

Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

1 reference

12 December 2020

Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population

1 reference

12 December 2020

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking

1 reference

12 December 2020

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

1 reference

12 December 2020

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

1 reference

12 December 2020

Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism

1 reference

12 December 2020

The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation

1 reference

12 December 2020

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

1 reference

12 December 2020

Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

1 reference

12 December 2020

Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations

1 reference

12 December 2020

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

1 reference

12 December 2020

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular Analysis of an Extended Family with Type IA (Tyrosinase-Negative) Oculocutaneous Albinism

1 reference

12 December 2020

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

1 reference

12 December 2020

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

12 December 2020

The Hermansky-Pudlak syndrome: ultrastructure of bone marrow macrophages

1 reference

12 December 2020

Locus control regions: coming of age at a decade plus

1 reference

12 December 2020

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

12 December 2020

Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)

1 reference

12 December 2020

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes

1 reference

12 December 2020

Mutational mapping of the catalytic activities of human tyrosinase

1 reference

12 December 2020

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation

1 reference

12 December 2020

Mosaicism of tyrosinase-locus transcription and chromatin structure in dark vs. light melanocyte clones of homozygouschinchilla-mottled mice

1 reference

12 December 2020

Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism

1 reference

12 December 2020

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency

1 reference

12 December 2020

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

1 reference

12 December 2020

Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA)

1 reference

12 December 2020

A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

1 reference

12 December 2020

A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype

1 reference

12 December 2020

Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)

1 reference

12 December 2020

Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene

1 reference

12 December 2020

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

12 December 2020

Molecular genetics of oculocutaneous albinism

1 reference

12 December 2020

Hermansky-Pudlak syndrome: models for intracellular vesicle formation

1 reference

12 December 2020