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Human Mutation|June 30, 2000
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5L Kozák, H Francová, E Hrabincová, et al.
Human Mutation|June 30, 2000
Identification of PATCHED mutations in medulloblastomas by direct sequencingJ Dong, M R Gailani, S L Pomeroy, et al.
Human Mutation|June 30, 2000
Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers-Danlos syndrome type VI: prenatal exclusion of this disorder in one familyH N Yeowell, L C Walker, B Farmer, et al.
Human Mutation|June 30, 2000
Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC)S Glasl, L Papatheodorou, G Baretton, et al.
Human Mutation|June 30, 2000
Identification of a larger than 3 Mb deletion including JAG1 in an Alagille syndrome patient with a translocation t(3;20)(q13.3;p12.2)T Oda, A G Elkahloun, P S Meltzer, et al.
Human Mutation|December 19, 2001
Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRXC Rivolta, E L Berson, T P Dryja
Human Mutation|December 19, 2001
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patientsL Harnevik, E Fjellstedt, A Molbaek, et al.
Human Mutation|December 26, 2001
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)Carlos Cardoso, Richard J Leventer, James J Dowling, et al.
Human Mutation|December 26, 2001
Two novel types of contiguous gene deletion of the AVPR2 and ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic diabetes insipidusMasashi Demura, Yoshiyu Takeda, Takashi Yoneda, et al.
Human Mutation|December 26, 2001
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypesPeter Bauer, Rupert Knoblich, Claudia Bauer, et al.
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