✦ LIBER ✦

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

✍ Scribed by E. Battiloro; Barbara Angeletti; Maria Cristina Tozzi; Lida Bruni; Sergio Tondini; Piero Vignetti; Roberto Verna; E. D’Ambrosio

Publisher: Springer
Year: 1997
Tongue: English
Weight: 32 KB
Volume: 100
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390050557

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Another mutation within the HMG-box of t

Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome

✍ Sibylle Jakubiczka; Thomas Bettecken; Markus Stumm; Josef Neulen; Peter Wieacker 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB

A novel mutation 5’ to the HMG box of th

A novel mutation 5’ to the HMG box of theSRYgene in a case of Swyer syndrome

✍ G. Mustafa Saifi; Preetha Tilak; Reiner Veitia; I. Manorama Thomas; Avirachan Th 📂 Article 📅 1999 🏛 Indian Academy of Sciences 🌐 English ⚖ 105 KB

A novel missense mutation in the HMG box

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

✍ Koji Okuhara; Toshihiro Tajima; Jun Nakae; Kenji Fujieda 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 153 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

A novel mutation in the neonatal region

A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)

✍ Ulrich Grau; Hanns-Georg Klein; Christian Detter; Helmut Mair; Armin Welz; Dietr 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 3 views

Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M

A family with pyruvate dehydrogenase com

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Ε1α gene

✍ Már Tulinius; Niklas Darin; Lars-Martin Wiklund; Eva Holmberg; Jan Erik Eriksson 📂 Article 📅 2004 🏛 Springer 🌐 English ⚖ 416 KB