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Human Mutation|August 28, 2007
Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndromeAudrey McAlinden, Marja Majava, Paul N Bishop, et al.
Human Mutation|July 12, 2007
Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delayWiktor Borozdin, John M Graham, Detlef Böhm, et al.
Human Mutation|September 20, 2007
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the geneManuel C Lemos, Rajesh V Thakker
Human Mutation|September 15, 2007
Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) geneDiana Rubin, Alexandra Schneider-Muntau, Maja Klapper, et al.
Human Mutation|April 17, 2007
Progranulin null mutations in both sporadic and familial frontotemporal dementiaIsabelle Le Ber, Julie van der Zee, Didier Hannequin, et al.
Human Mutation|April 18, 2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophyPetra Liskova, Stephen J Tuft, Rhian Gwilliam, et al.
Human Mutation|April 13, 2007
Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signatureDongqing Gu, William A Scaringe, Kai Li, et al.
Human Mutation|April 14, 2007
Functional profiling of uncommon VCAM1 promoter polymorphisms prevalent in African American populationsGila Idelman, James G Taylor, Ron Tongbai, et al.
Human Mutation|April 4, 2007
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein traffickingChristina Zeitz, Ursula Forster, John Neidhardt, et al.
Human Mutation|March 31, 2007
Effective detection of corrected dystrophin loci in mdx mouse myogenic precursorsMarian Todaro, Anita Quigley, Magdalena Kita, et al.
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