Persistent Mullerian Duct Syndrome Caused by Both a 27-bp Deletion and a Novel Splice Mutation in the MIS Type II Receptor Gene

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 67, Issue 10, 2003, Pages 868-874

  Hoshiya, Makiko ^a   Christian, Benjamin P ^a   Cromie, William J ^b   Kim, Hyung ^b   Zhan, Yong ^a   MacLaughlin, David T ^a   Donahoe, Patricia K ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CHICAGO MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKINE RECEPTOR; GENOMIC DNA; HORMONE; MUELLERIAN INHIBITING FACTOR; MUELLERIAN INHIBITING FACTOR RECEPTOR II; RECEPTOR SUBTYPE; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; EXON; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HORMONE BLOOD LEVEL; HUMAN; IMMUNOASSAY; INFANT; INTRON; MALE; MALE PSEUDOHERMAPHRODITISM; NUCLEOTIDE SEQUENCE; PERSISTENT MUELLERIAN DUCT SYNDROME; PRIORITY JOURNAL; STOP CODON; VIRILIZATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MULLERIAN DUCTS; POINT MUTATION; PSEUDOHERMAPHRODITISM; RECEPTORS, PEPTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICING; RNA, MESSENGER; SEQUENCE DELETION; SYNDROME;

EID: 0242349758     PISSN: 15420752     EISSN: None     Source Type: Journal    
DOI: 10.1002/bdra.10091     Document Type: Article

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