TY  - JOUR
AU  - Camats, Núria
AU  - Fernández-Cancio, Mónica
AU  - Audí, Laura
AU  - Mullis, Primus E
AU  - Moreno, Francisca
AU  - González Casado, Isabel
AU  - López-Siguero, Juan Pedro
AU  - Corripio, Raquel
AU  - Bermúdez de la Vega, José Antonio
AU  - Blanco, José Antonio
AU  - Flück, Christa E
PY  - 2015
DO  - 10.1371/journal.pone.0142831
UR  - http://hdl.handle.net/10668/2222
T2  - PloS One
AB  - MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the...
LA  - en
PB  - Public Library of Science
KW  - Inmunotransferencia Western
KW  - Trastornos del desarrollo sexual 46XY
KW  - Heterocigoto
KW  - Ratones
KW  - Ratones noqueados
KW  - Proteínas mutantes
KW  - Mutación
KW  - Fenotipo
KW  - Desarrollo sexual
KW  - Esteroide 17-alfa-hidroxilasa
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Molecular Probe Techniques::Blotting, Western
KW  - Medical Subject Headings::Diseases::Endocrine System Diseases::Gonadal Disorders::Disorders of Sex Development::46, XY Disorders of Sex Development
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Mice
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Mice::Mice, Transgenic::Mice, Knockout
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Mutant Proteins
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Sexual Development
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Hemeproteins::Cytochromes::Cytochrome P-450 Enzyme System::Steroid Hydroxylases::Steroid 17-alpha-Hydroxylase
TI  - Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
TY  - research article
ER  -