✦ LIBER ✦

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal

✍ Scribed by Koji Okuhara; Toshihiro Tajima; Jun Nakae; Kenji Fujieda

Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 153 KB
Volume: 45
Category: Article
ISSN: 1435-232X
DOI: 10.1007/s100380050026

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel missense mutation (P131R) in the H

Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal

✍ Yvonne Lundberg; Martin Ritzén; Jonas Harlin; Anna Wedell 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 221 KB

position 132. The proband belonged to a two-generation family in which three members had suffered from motor neuron disease. The proband had a phenotype of predominantly lower motor neuron signs, whereas the two other affected members showed classic signs of ALS. Age of death was 52 years, 61 years,

Mutation in the 5′ noncoding region of t

Mutation in the 5′ noncoding region of the SRY gene in an XY sex-reversed patient

✍ Francis Poulat; Marion Desclozeaux; Sylvie Tuffery; Philippe Jay; Brigitte Boize 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 235 KB

A novel missense mutation (S18N) in the

A novel missense mutation (S18N) in the 5′ non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives

✍ Sorahia Domenice; Miriam Yumie Nishi; Ana Elisa Correia Billerbeck; Ana Claudia 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 42 KB

Novel missense mutation in the HMG box o

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

✍ Dr. Katsumi Goji; Eüi Nishijima; Chikara Tsugawa; Hisahide Nishio; Rohit Kumar P 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 222 KB 👁 1 views

Identification of a new nonsense mutatio

Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal

✍ Mario Giuffrè; Piero Sammarco; Carmelo Fabiano; Fabio Giardina; Fabio Lunetta; G 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 1 views

A novel double nucleotide substitution i

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome

✍ E. Battiloro; Barbara Angeletti; Maria Cristina Tozzi; Lida Bruni; Sergio Tondin 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 32 KB