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

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Veröffentlicht in:	Human mutation 1998, Vol.11 (S1), p.S114-S116
Hauptverfasser:	Goji, Katsumi, Nishijima, Eüi, Tsugawa, Chikara, Nishio, Hisahide, Pokharel, Rohit Kumar, Matsuo, Masafumi
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Base Sequence Binding Sites Child Disorders of Sex Development - genetics DNA - chemistry DNA - genetics DNA Mutational Analysis Exons - genetics High Mobility Group Proteins - genetics High Mobility Group Proteins - metabolism Humans Japan Male Mutation, Missense Osteochondrodysplasias - genetics Point Mutation SOX9 Transcription Factor Transcription Factors - genetics Transcription Factors - metabolism
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