Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies^†

• Pages: 153-161
• First Published: 21 August 2002

Data mining of public SNP databases for the selection of intragenic SNPs^†

• Pages: 162-173
• First Published: 21 August 2002

• Pages: 174-179
• First Published: 21 August 2002

• Pages: 180-188
• First Published: 21 August 2002

• Pages: 189-196
• First Published: 21 August 2002

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies^†

• Pages: 197-208
• First Published: 21 August 2002

• Pages: 209-217
• First Published: 21 August 2002

• Pages: 218-226
• First Published: 21 August 2002

• Pages: 227-229
• First Published: 21 August 2002

Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer^{† ‡}

• Page: 230
• First Published: 21 August 2002

Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A^{† ‡}

• Pages: 230-231
• First Published: 21 August 2002

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations^{† ‡}

• Page: 231
• First Published: 21 August 2002

Identification of seven novel mutations of F8C by DHPLC^{† ‡}

• Pages: 231-232
• First Published: 21 August 2002

A founder mutation (R254X) of SLC22A5 (OCTN2) in Chinese primary carnitine deficiency patients^{† ‡}

• Page: 232
• First Published: 21 August 2002

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia^{† ‡}

• Pages: 232-233
• First Published: 21 August 2002

Genetic background of Huntington disease in Croatia: Molecular analysis of CAG, CCG, and Δ2642 (E2642del) polymorphisms^{† ‡}

• Page: 233
• First Published: 21 August 2002

Analysis of the PTCH coding region in human rhabdomyosarcoma^{† ‡}

• Pages: 233-234
• First Published: 21 August 2002

Human piebaldism: six novel mutations of the proto-oncogene KIT^{† ‡}

• Page: 234
• First Published: 21 August 2002

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients^{† ‡}

• Pages: 234-235
• First Published: 21 August 2002

Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families^{† ‡}

• Page: 235
• First Published: 21 August 2002

Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia^{† ‡}

• Pages: 235-236
• First Published: 21 August 2002

Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndrome^{† ‡}

• Page: 236
• First Published: 21 August 2002

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A^{† ‡}

• Pages: 236-237
• First Published: 21 August 2002

Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis^{† ‡}

• Page: 237
• First Published: 21 August 2002