✦ LIBER ✦

Investigation of the W185X nonsense mutation ofPVRL1 gene in Italian nonsyndromic cleft lip and palate patients

✍ Scribed by Scapoli, Luca ;Marchesini, Jlenia ;Palmieri, Annalisa ;Carinci, Francesco ;Pezzetti, Furio ;Martinelli, Marcella ;Gombos, Fernando ;Delaiti, Gianfranco ;Tognon, Mauro ;Carinci, Paolo

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 32 KB
Volume: 127A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20684

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Investigations of the genomic region tha

Investigations of the genomic region that contains the clf1 mutation, a causal gene in multifactorial cleft lip and palate in mice

✍ Diana M. Juriloff; Muriel J. Harris; Sarah L. Dewell; Carolyn J. Brown; Dixie L. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 261 KB 👁 1 views

## Abstract ## BACKGROUND Human nonsyndromic cleft lip and palate, CL(P), is genetically complex, with one contributing gene on chromosome 17q. A potentially homologous gene, __clf1__ on distal chromosome 11, is part of the digenic cause of the 10–30% CL(P) in the A/WySn mouse strain. Here we repo

Contribution of variants in and near the

Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population

✍ Iman Salahshourifar; Wan Azman Wan Sulaiman; Bin Alwi Zilfalil; Ahmad Sukari Hal 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB 👁 2 views

Role of the C677T polymorphism at theMTH

Role of the C677T polymorphism at theMTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil

✍ Gaspar, D. A.; Pavanello, R. C.; Zatz, M.; Passos-Bueno, M. R.; Andr�, M.; Stema 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Increased occurrence of cleft lip in gly

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): Exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop

✍ Huie, M.L.; Kasper, J.S.; Arn, P.H.; Greenberg, C.R.; Hirschhorn, R. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

## Genetic deficiency of lysosomal acid ␣-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type II (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and cardiac muscle. During an earlier review we noted 3 i