Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations

By Hanson I.  

Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 165-172

Oxford University Press

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Three novel mutations of the PAX6 gene in Japanese aniridia patients

By Kawano Toshio   Wang Chunxia   Hotta Yoshihiro   Sato Miho   Iwata-Amano Emi   Hikoya Akiko   Fujita Naoya   Koyama Norihisa   Shirai Shoichiro   Azuma Noriyuki   Ohtsubo Masafumi   Shimizu Nobuyoshi   Minoshima Shinsei  

Journal of Human Genetics, Vol. 52, Iss. 7, 2007-07 ,pp. : 571-574

Springer Publishing Company

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Functional analysis of neurofibromatosis 2 (NF2) missense mutations

By Gutmann D.H.   Hirbe A.C.   Haipek C.A.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1519-1529

Oxford University Press

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Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

By Hahnen Eric   Schönling Jutta   Rudnik-Schöneborn Sabine   Raschke Heidrun   Zerres Klaus   Wirth Brunhilde  

Human Molecular Genetics, Vol. 6, Iss. 5, 1997-01 ,pp. : 821-825

Oxford University Press

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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

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