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PMID: 4983623 Published · ppublish English Journal Article

Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity.

American journal of human genetics ·Vol. 22 ·No. 1 ·1970-01-00 ·Pages 55-74

Witkop CJ, Nance WE, Rawls RF, White JG

Abstract

暂无摘要

MeSH Terms
Albinism/epidemiology,genetics Blacks Catechol Oxidase/metabolism Child, Preschool Female Gene Frequency Genes, Recessive Hair/metabolism Heterozygote Humans Iris/abnormalities Male Melanins/metabolism Melanocyte-Stimulating Hormones/blood Microscopy, Electron Mutation North Carolina Pedigree Phenotype Tyrosine/metabolism Whites
Chemicals
Melanins Tyrosine Melanocyte-Stimulating Hormones Catechol Oxidase
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Witkop C J
Nance W E
Rawls R F
White J G
References (17)
17 references, click to expand
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1970-01-00
Pages
55-74
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1706512
Subset
IM
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