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Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

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Title: Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
Authors: Chamberlin A; Ambry Genetics, Aliso Viejo, CA, USA., Huether R; Ambry Genetics, Aliso Viejo, CA, USA., Machado AZ; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil., Groden M; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA., Liu HM; Ambry Genetics, Aliso Viejo, CA, USA., Upadhyay K; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA., O V; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA., Gomes NL; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil., Lerario AM; Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA., Nishi MY; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil., Costa EMF; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil., Mendonca B; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil., Domenice S; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil., Velasco J; Pediatric Endocrinology, Marshfield Clinic, Marshfield, WI, USA., Loke J; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA., Ostrer H; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA.
Source: Human molecular genetics [Hum Mol Genet] 2019 May 15; Vol. 28 (10), pp. 1620-1628.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.
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  Data: <searchLink fieldCode="AU" term="%22Chamberlin+A%22">Chamberlin A</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Huether+R%22">Huether R</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Machado+AZ%22">Machado AZ</searchLink>; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Groden+M%22">Groden M</searchLink>; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Liu+HM%22">Liu HM</searchLink>; Ambry Genetics, Aliso Viejo, CA, USA.<br /><searchLink fieldCode="AU" term="%22Upadhyay+K%22">Upadhyay K</searchLink>; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22O+V%22">O V</searchLink>; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Gomes+NL%22">Gomes NL</searchLink>; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Lerario+AM%22">Lerario AM</searchLink>; Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.<br /><searchLink fieldCode="AU" term="%22Nishi+MY%22">Nishi MY</searchLink>; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Costa+EMF%22">Costa EMF</searchLink>; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Mendonca+B%22">Mendonca B</searchLink>; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Domenice+S%22">Domenice S</searchLink>; Division of Endocrinology, Hormone and Molecular Genetics Laboratory (LIM), Hospital das Clinicas, University of Sao Paulo Medical School, Avenida Dr. Eneas de C Aguiar, andar Bloco, São Paulo, SP, Brazil.<br /><searchLink fieldCode="AU" term="%22Velasco+J%22">Velasco J</searchLink>; Pediatric Endocrinology, Marshfield Clinic, Marshfield, WI, USA.<br /><searchLink fieldCode="AU" term="%22Loke+J%22">Loke J</searchLink>; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA.<br /><searchLink fieldCode="AU" term="%22Ostrer+H%22">Ostrer H</searchLink>; Department of Pathology, Albert Einstein College of Medicine, Bronx, NY, USA.
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  Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2019 May 15; Vol. 28 (10), pp. 1620-1628.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE
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