Novel missense mutation in the HMG box of SOX9 gene in a japanese XY male resulted in campomelic dysplasia and severe defect in masculinization

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Goji, Katsumi ^a   Nishijima, Eiji ^a   Tsugawa, Chikara ^a   Nishio, Hisahide ^b   Pokharel, Rohit Kumar ^b   Matsuo, Masafumi ^b  

^a KOBE CHILDREN S HOSPITAL   (Japan)

^b KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; HIGH MOBILITY GROUP PROTEIN; SOX-9 TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX9;

AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CASE REPORT; CHEMISTRY; CHILD; CHONDRODYSPLASIA; EXON; GENETICS; HUMAN; JAPAN; MALE; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; SEX DIFFERENTIATION DISORDER; BONE DYSPLASIA; DNA SEQUENCE; KARYOTYPE 46,XY; MASCULINITY; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; BASE SEQUENCE; BINDING SITES; CHILD; DNA; DNA MUTATIONAL ANALYSIS; EXONS; HIGH MOBILITY GROUP PROTEINS; HUMANS; JAPAN; MALE; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; SEX DIFFERENTIATION DISORDERS; TRANSCRIPTION FACTORS;

EID: 0032239399     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110138     Document Type: Article

References (9)

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