Human Mutation: Vol 23, No 6

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Human Mutation

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The androgen receptor gene mutations database (ARDB): 2004 update ^†

PromoLign: A database for upstream region analysis and SNPs ^†

Identification and characterization of ANKK1: A novel kinase gene closely linked to DRD2 on chromosome band 11q23.1 ^†

Identification of a functional mutation in pp32r1 (ANP32C)^†

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene ^†

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A ^†

Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms ^†

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency ^†

Branchio-oto-renal syndrome: The mutation spectrum in EYA1 and its phenotypic consequences ^†^‡

General implications for CpG hot spot mutations: Methylation patterns of the human iduronate-2-sulfatase gene locus ^†^‡

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus ^†

Denaturing high-performance liquid chromatography (DHPLC) as a reliable high-throughput prescreening method for aberrant promoter methylation in cancer ^†

An improved electronic microarray-based diagnostic assay for identification of MEFV mutations ^†

Erratum: Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients ^†^‡

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1 ^†^‡

Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH)^†^‡

Familial melanoma, pancreatic cancer and germline CDKN2A mutations ^†^‡^§

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism ^†^‡

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria ^†^‡

GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary ^†^‡

BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension ^†^‡

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy ^†^‡

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