Reference health
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
46/46 checkable references clean · checked 2026-08-18
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
3 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 46 checked references that resolve
resolves10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C
Molecular basis of albinism: Mutations and polymorphisms of pigmentation genes associated with albinism
resolves10.1111/cge.12019
<i><scp>OCA5,</scp></i> a novel locus for non‐syndromic oculocutaneous albinism, maps to chromosome 4q24
resolves10.1167/iovs.07-0791
A Comprehensive Genetic Study of Autosomal Recessive Ocular Albinism in Caucasian Patients
resolves10.1038/jhg.2016.123
Clinical evaluation and molecular screening of a large consecutive series of albino patients
resolves10.1111/j.1755-148X.2008.00496.x
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1–4 genes and practical aspects
resolves10.1002/humu.22315
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics
resolves10.1034/j.1600-0749.13.s8.23.x
Molecular Bases of Congenital Hypopigmentary Disorders in Humans and Oculocutaneous Albinism 1 in Japan
resolves10.1172/JCI59372
Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
resolves10.1038/nmeth0810-575
MutationTaster evaluates disease-causing potential of sequence alterations
resolves10.1038/nprot.2009.86
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
resolves10.1016/S0021-9258(18)35895-2
Mutational mapping of the catalytic activities of human tyrosinase.
resolves10.1073/pnas.97.11.5889
Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism
resolves10.1046/j.1523-1747.2000.00108.x
Aberrant pH of Melanosomes in Pink-Eyed Dilution (p) Mutant Melanocytes
resolves10.1159/000017897
Sequence-Based Diagnosis of Tyrosinase-Related Oculocutaneous Albinism: Successful Sequence Analysis of the Tyrosinase Gene from Blood Spots Dried on Filter Paper
resolves10.1006/excr.1997.3901
Melanosomal Defects in Melanocytes from Mice Lacking Expression of thePink-Eyed DilutionGene: Correction by Culture in the Presence of Excess Tyrosine
resolves10.1006/exer.1998.0599
The Locus Controls the Biogenesis of Melanosomes and Levels of Melanosomal Proteins in the Eye
resolves10.1093/bioinformatics/bts526
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling
resolves10.1101/gr.138115.112
Copy number variation detection and genotyping from exome sequence data
resolves10.1002/humu.10253
Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends
resolves10.1186/1750-1172-7-44
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population
resolves10.1038/jid.2012.432
Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism
resolves10.1111/pcmr.12400
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population
resolves10.1111/pcmr.12438
Identification and clinical characterization of Hermansky–Pudlak syndrome alleles in the Pakistani population
resolves10.1017/S0021932098002612
THE PREVALENCE AND DEMOGRAPHIC CHARACTERISTICS OF CONSANGUINEOUS MARRIAGES IN PAKISTAN
resolves10.1111/j.1365-2133.2010.09830.x
Comprehensive analysis of the molecular basis of oculocutaneous albinism in Indian patients lacking a mutation in the tyrosinase gene
resolves10.1038/jid.2008.109
Comprehensive Analysis of Oculocutaneous Albinism among Non-Hispanic Caucasians Shows that OCA1 Is the Most Prevalent OCA Type
resolves10.1007/s004390050568
Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene
resolves10.1172/JCI115075
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
resolves10.1002/jez.1402150111
The effect of temperature on tyrosinase activity in Himalayan mouse skin
resolves10.1172/JCI115064
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.
resolves10.1042/bj3550259
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation
resolves10.1093/nar/17.20.8390
A simple and efficient non-organic procedure for the isolation of genomic DNA from blood
resolves10.1101/gr.107524.110
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
resolves10.1093/bioinformatics/btp324
Fast and accurate short read alignment with Burrows–Wheeler transform
resolves10.1038/nprot.2009.2
Protein structure prediction on the Web: a case study using the Phyre server
resolves10.1007/s00439-002-0732-4
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
The 3 references without a DOI — listed, not checked
no DOI — not checkedPreising, M. N. et al. Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches. Mol Vis 13, 1851–1855 (2007).
no DOI — not checkedGershoni-Baruch, R. et al. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 54, 586–594 (1994).
no DOI — not checkedKing, R. A., Mentink, M. M. & Oetting, W. S. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med 8, 19–29 (1991).
What this badge says. CiteStamped means the CHECKABLE references of this
work were clean at the dated check: each resolved to a known work in a public registry, and none
carried a retraction notice at that time. It says nothing about the quality, findings,
or importance of the work itself, and nothing about references deposited without a DOI.
checked 2026-08-18 — re-checked daily as this page is visited; titles and statuses come from Crossref and DataCite and are not part of the signed record
Embed this badge
Both snippets point at the live badge image and link back to this page. The badge re-renders from the daily check, so an embed never goes stale by more than a day of visits.
<a href="https://citestamp.com/citestamped/10.1038/srep44185"><img src="https://citestamp.com/citestamped/10.1038/srep44185/badge.svg" alt="CiteStamped reference-health badge" width="460" height="64"></a>
[](https://citestamp.com/citestamped/10.1038/srep44185)