Unknown

Dataset Information

0

A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.

ABSTRACT:

SUBMITTER: Joly P 

PROVIDER: S-EPMC2864397 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.

Joly Philippe P   Lacan Philippe P   Labalme Audrey A   Bonhomme Elodie E   Sanlaville Damien D   Francina Alain A  

Haematologica 20091130 5

Similar Datasets

Unknown An approximately 140-kb deletion associated with feline spinal muscular atrophy implies an essential LIX1 function for motor neuron survival.
| S-EPMC1557767 | biostudies-literature
Unknown Breakpoint characterization of a novel approximately 59 kb genomic deletion on 19q13.42 in autosomal-dominant retinitis pigmentosa with incomplete penetrance.
| S-EPMC2796252 | biostudies-literature
Unknown Molecular analysis of a large novel deletion causing α<sup>+</sup>-thalassemia.
| S-EPMC6501318 | biostudies-literature
Unknown Revisiting and updating molecular epidemiology of α-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine α-thalassemia deletion.
| S-EPMC10276873 | biostudies-literature
Unknown Association of Tissue-Specific DNA Methylation Alterations with α-Thalassemia Southeast Asian Deletion.
| S-EPMC5692129 | biostudies-literature
Unknown [Identification of a new 3.8kb deletional α thalassemia and detection of the deletion fragment].
| S-EPMC6765508 | biostudies-literature
Unknown Revealing silent alpha-thalassemia: characterization of novel HBA1 deletion and missense mutation in Tunisian families.
| S-EPMC12283798 | biostudies-literature
Unknown Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.
| S-EPMC1199302 | biostudies-literature
Unknown Unusual telomeric DNAs in human telomerase-negative immortalized cells.
| S-EPMC2630689 | biostudies-literature
Unknown Characterization of an Equine α-S2-Casein Variant Due to a 1.3 kb Deletion Spanning Two Coding Exons.
| S-EPMC4596476 | biostudies-literature