OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. (Q53568381)

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scientific article published on 14 June 2007

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English	OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.	scientific article published on 14 June 2007

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Europe PubMed Central

PubMed publication ID

17568986

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15 May 2018

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http://europepmc.org/abstract/MED/17568986

title

OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations. (English)

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17568986

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15 May 2018

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Isao Yuasa

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1

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17568986

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Kazuo Umetsu

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2

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17568986

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Shinji Harihara

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3

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17568986

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Aya Miyoshi

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17568986

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Naruya Saitou

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5

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17568986

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Kyung Sook Park

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6

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17568986

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Bumbein Dashnyam

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7

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17568986

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Feng Jin

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8

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17568986

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Gérard Lucotte

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9

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17568986

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Prasanta K Chattopadhyay

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10

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17568986

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Lotte Henke

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11

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17568986

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Jürgen Henke

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publication date

14 June 2007

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17568986

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15 May 2018

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http://europepmc.org/abstract/MED/17568986

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Journal of Human Genetics

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17568986

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volume

52

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17568986

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15 May 2018

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issue

8

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17568986

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http://europepmc.org/abstract/MED/17568986

page(s)

690-693

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cites work

A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned

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https://pubmed.ncbi.nlm.nih.gov/17568986

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12 December 2020

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High frequency of the Ala481Thr mutation of the P gene in the Japanese population

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https://pubmed.ncbi.nlm.nih.gov/17568986

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12 December 2020

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Signatures of positive selection in genes associated with human skin pigmentation as revealed from analyses of single nucleotide polymorphisms.

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12 December 2020

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Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences

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The genetic architecture of normal variation in human pigmentation: an evolutionary perspective and model.

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Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome

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A scan for signatures of positive selection in candidate loci for skin pigmentation in humans

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Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes

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Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P.

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Prevalence of actinic keratosis in Japan

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Six Novel P Gene Mutations and Oculocutaneous Albinism Type 2 Frequency in Japanese Albino Patients

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A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

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A golden age of human pigmentation genetics

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Male demography in East Asia: a north-south contrast in human population expansion times

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Aberrant pH of melanosomes in pink-eyed dilution (p) mutant melanocytes

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Organization and sequence of the human P gene and identification of a new family of transport proteins

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Skin cancer screening in Okinawa, Japan

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Two novel mutations detected in Japanese patients with oculocutaneous albinism

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

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Identifying genes underlying skin pigmentation differences among human populations

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P gene mutations associated with oculocutaneous albinism type II (OCA2)

1 reference

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The evolution of human skin coloration

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1 reference

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1 reference

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Identifiers

DOI

10.1007/S10038-007-0167-9

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Europe PubMed Central

PubMed publication ID

17568986

retrieved

15 May 2018

reference URL

http://europepmc.org/abstract/MED/17568986

PubMed publication ID

17568986

1 reference

stated in

Europe PubMed Central

PubMed publication ID

17568986

retrieved

15 May 2018

reference URL

http://europepmc.org/abstract/MED/17568986

ResearchGate publication ID

6268134

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