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. |
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| 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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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddz002 |
