Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.

Human genetics - 1 Apr 1997

Stevens G, Ramsay M, Jenkins T

Abstract excerpt

Oculocutaneous albinism (OCA2) is the most common autosomal recessive disorder in the South African Negroid population, occurring with a prevalence of 1/3900 individuals. The OCA2 locus, P, has been mapped to chromosome 15q11-q13 and a 2.7-kb interstitial deletion has been found to be the common...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Albinism, Oculocutaneous
Share to Alleles
Share to Gene Deletion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Haplotypes

Source

Identifiers

PMID: 9099845
DOI: 10.1007/s004390050400

Genes

OCA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9099845-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.PMID 9099845Read ↗

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

Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.Semantic proximity Read ↗

Molecular genetic characterization of Congolese patients with oculocutaneous albinism.Semantic proximity Read ↗

Albinism research in a Southern African setting: unique findingsSemantic proximity Read ↗

Genotypic spectrum of albinism in Mali.Semantic proximity Read ↗

GENOTYPIC SPECTRUM OF ALBINISM IN MALISemantic proximity Read ↗

Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.Semantic proximity Read ↗

Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).Semantic proximity Read ↗

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.Semantic proximity Read ↗

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issuesSemantic proximity Read ↗

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.Semantic proximity Read ↗

Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.