Identification of a novel splicing mutation and 1-bp deletion in the 17α-hydroxylase gene of Japanese patients with 17α-hydroxylase deficiency

By Yamaguchi Hideki   Nakazato M.   Miyazato Mikiya   Toshimori Hirotaka   Oki Syougo   Shimizu Kenichi   Suiko Masahito   Kangawa Kenji   Matsukura Shigeru  

Human Genetics, Vol. 102, Iss. 6, 1998-07 ,pp. : 635-639

Springer Publishing Company

Access to resources Recommend Favorite

Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the Carney complex

By Kirschner Lawrence S.   Sandrini Fabiano   Monbo Juahdi   Lin Jing‐Ping   Carney J. Aidan   Stratakis ConstantineA.  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 3037-3046

Oxford University Press

Access to resources Recommend Favorite

Assessing genetic diversity in a sugarcane germplasm collection using an automated AFLP analysis

By Besse P.   Taylor G.   Carroll B.   Berding N.   Burner D.   McIntyre C.L.  

Genetica, Vol. 104, Iss. 2, 1998-02 ,pp. : 143-153

Springer Publishing Company

Access to resources Recommend Favorite

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-B activation

By Fusco Francesca  

Human Molecular Genetics, Vol. 13, Iss. 16, 2004-08 ,pp. : 1763-1773

Oxford University Press

Access to resources Recommend Favorite

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor ε Subunit Gene: Identification and Functional Characterization of Six New Mutations

By Ohno Kinji  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 753-766

Oxford University Press

Access to resources Recommend Favorite