✦ LIBER ✦

A germline mutation of theKIF1Bβgene on 1p36 in a family with neural and nonneural tumors

✍ Scribed by I-Tien Yeh; Romina E. Lenci; Yuejuan Qin; Kalyan Buddavarapu; Azra H. Ligon; Emmanuelle Leteurtre; Christine Do Cao; Catherine Cardot-Bauters; Pascal Pigny; Patricia L. M. Dahia

Publisher: Springer
Year: 2008
Tongue: English
Weight: 293 KB
Volume: 124
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-008-0553-1

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Germline mutation in the juxtamembrane d

Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa

✍ Alessandro Beghini; MariaGrazia Tibiletti; Gaia Roversi; AnnaMaria Chiaravalli; 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 491 KB 👁 2 views

Germline mutations of the POU6F2 gene in

Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14

✍ Daniela Perotti; Giovanna De Vecchi; Maria A. Testi; Elena Lualdi; Piergiorgio M 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 201 KB 👁 2 views

Wilms tumor (WT) is a kidney malignancy of childhood characterized by highly heterogeneous genetic alterations. We previously reported the molecular and cytogenetic characterization of a WT (Case 30) carrying an interstitial deletion in chromosome 7p14 between markers D7S555 and D7S668. Loss of hete

Identification of a novel mutation (A268

Identification of a novel mutation (A268G) in exon 8 of the HTRβ gene in a large family with thyroid hormone resistance

✍ Pascal Jézéquel; Isabelle Guilhem; Jean Pierre Hespel; André Le Treut; Jean Yves 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 135 KB 👁 1 views

## MUTATION NOTES PCR-SSCP and the protein truncation test (PTT), which utilises in v i m transcription-translation to detect mutations that result in the introduction of a permature stop codon and thus to a truncated protein (van der Luijt et al., 1994). Exons 1-14 of the APC gene were PCR amplif

A novel germline in frame deletion (4128

A novel germline in frame deletion (4128del3) of the BRCA2 gene detected in a breast/ovarian cancer family with fallopian tube and brain tumors identified in the north of France

✍ Liliane Demange; Tetsuro Noguchi; Richard Sauvan; Nathalie Moyal-Amsellem; Danie 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 2 views

Twenty-one novel mutations in the GLB1 g

Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies

✍ Raül Santamaria; Amparo Chabás; Maria Josep Coll; Clara Sa Miranda; Lluïsa Vilag 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB 👁 1 views

## Communicated by Elizabeth Neufeld GM1-gangliosidosis and Morquio B disease are rare lysosomal storage disorders caused by β-galactosidase deficiency due to mutations in the GLB1 gene. Three major clinical forms of GM1-gangliosidosis have been established on the basis of age of onset and severit

Identification of a novel R552Q mutation

Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

✍ Diana Valverde; Montserrat Baiget; Ramón Seminago; Elisabeth Del Rio; Blanca Gar 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 218 KB 👁 1 views

severe pulmonary and intestinal disease including ileus at birth and liver cirrhosis at the age 5 years, whereas the other one developed much better with only mild pulmonary changes. Clinical follow-up evaluation of our patient, a 5-year-old girl, was evocative of an intermediary status. Diagnosis o