Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation

Autor:	I R Walpole, M T Mulcahy
Rok vydání:	1991
Předmět:	Male musculoskeletal diseases endocrine system congenital hereditary and neonatal diseases and abnormalities Chromosome Disorders Chromosomal translocation Locus (genetics) Biology Translocation Genetic Tyrosinase Positive Genetics medicine Humans Gene Genetics (clinical) Chromosome Aberrations Monophenol Monooxygenase Chromosome Mapping pathological conditions signs and symptoms medicine.disease Oculocutaneous albinism Molecular biology eye diseases Albinism Oculocutaneous Tyrosinase-positive oculocutaneous albinism Monophenol monooxygenase Child Preschool Chromosomes Human Pair 2 Albinism Chromosomes Human Pair 4 Research Article
Zdroj:	Journal of Medical Genetics. 28:482-484
ISSN:	1468-6244
DOI:	10.1136/jmg.28.7.482
Popis:	A subject with clinical and biochemical tyrosinase positive oculocutaneous albinism (OCA) also had a balanced translocation, 46,XY,t(2;4)(q31.2;q31.22). This observation provides evidence for a possible gene locus in the q31 region of chromosome 2 or 4.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c49148bdce3585331b518ab93703498c https://doi.org/10.1136/jmg.28.7.482 Zobrazit plný text záznamu