Amish albinism: a distinctive autosomal recessive phenotype.

American journal of human genetics ·Vol. 22 ·No. 5 ·1970-09-00 ·Pages 579-86

Nance WE, Jackson CE, Witkop CJ

Abstract

暂无摘要

MeSH Terms

Adolescent Adult Albinism/diagnosis,genetics Child Child, Preschool Consanguinity Ethnicity Female Genes, Recessive Genetic Linkage Humans Male Pedigree

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Nance W E

Jackson C E

Witkop C J

References (13)

13 references, click to expand

Evidence for linkage between haemoglobin and chromogen loci.
Folia Biol (Praha). 1966;12(4):305-6 PMID: 5912030
A new oculocerebral syndrome with hypopigmentation.
J Pediatr. 1967 Mar;70(3):398-406 PMID: 4959856
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.
Pediatrics. 1968 Feb;41(2):495-502 PMID: 5637795
Consanguinity and blood group distribution in an Amish Isolate.
Am J Hum Genet. 1968 Nov;20(6):522-7 PMID: 5714527
Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity.
Am J Hum Genet. 1970 Jan;22(1):55-74 PMID: 4983623
Induction of melanin synthesis in albino mouse skin by DNA from pigmented mice.
Proc Natl Acad Sci U S A. 1969 Sep;64(1):184-9 PMID: 5263001
Genetic linkage analysis of human hemoglobin variants.
Am J Hum Genet. 1970 Jul;22(4):453-9 PMID: 5432289
Marriage of two complete albinos with normally pigmented offspring.
Br J Ophthalmol. 1952 Feb;36(2):107-8 PMID: 14904868
The free amino acids of human blood plasma.
J Biol Chem. 1954 Dec;211(2):915-26 PMID: 13221597
Tyrosinase activity in melanocytes of human albinos.
J Invest Dermatol. 1961 Jul;37:73-6 PMID: 13754937
Studies on the mouse hemoglobin loci. II. Position of the hemoglobin locus with respect to albinism and shaker-1 loci.
J Hered. 1962 Mar-Apr;53:73-80 PMID: 14487977
GENETIC STUDIES OF THE AMISH, BACKGROUND AND POTENTIALITIES.
Bull Johns Hopkins Hosp. 1964 Sep;115:203-22 PMID: 14209042
Sequential tests for the detection of linkage.
Am J Hum Genet. 1955 Sep;7(3):277-318 PMID: 13258560

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1970-09-00

Pages

579-86

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1706616

Subset

External Links

PubMed source PMC Full Text View journal details

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