Intron-size constraint as a mutational mechanism in Rothmund-Thomson Syndrome

American Journal of Human Genetics

Volumn 71, Issue 1, 2002, Pages 165-167

  Wang, Lisa L ^a   Worley, Kim ^a   Gannavarapu, Anu ^a   Chintagumpala, Murali M ^a   Levy, Moise L ^a   Plon, Sharon E ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 8; CONTROLLED STUDY; EXON; GENE MUTATION; GENE STRUCTURE; HUMAN; INTRON; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME;

EID: 0036308256     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341234     Document Type: Article

References (13)

1. Exon recognition in vertebrate splicing
2. Rothmund-Thomson syndrome responsible gene, RECQL4: Genomic structure and products
3. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
4. Initial sequencing and analysis of the human genome
5. Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene
6. Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome
7. Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA
8. Splicing mutations of the polycystic kidney disease 1 (PKD1) gene induced by intronic deletion
9. mRNA precursor splicing in vivo: Sequence requirements determined by deletion analysis of an intervening sequence
10. Rothmund-Thomson syndrome: Review of the world literature
11. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients
12. Evidence for genetic heterogeneity in Rothmund-Thomson syndrome
13. Human hypertension caused by mutations in WNK kinases