✦ LIBER ✦

Assignment of the Locus for a New Lethal Neonatal Metabolic Syndrome to 2q33-37

✍ Scribed by Ilona Visapää; Vineta Fellman; Teppo Varilo; Aarno Palotie; Kari O. Raivio; Leena Peltonen

Book ID: 117852616
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 746 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/302123

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Assignment of the Locus for Hydrolethalu

Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25

✍ Ilona Visapää; Riitta Salonen; Teppo Varilo; Paulina Paavola; Leena Peltonen 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 515 KB

Assignment of the Disease Locus for Leth

Assignment of the Disease Locus for Lethal Congenital Contracture Syndrome to a Restricted Region of Chromosome 9q34, by Genome Scan Using Five Affected Individuals

✍ Päivi Mäkelä-Bengs; Niklas Järvinen; Katri Vuopala; Anu Suomalainen; Jaakko Igna 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 891 KB

A Genome-Screen of a Large Twin Cohort R

A Genome-Screen of a Large Twin Cohort Reveals Linkage for Quantitative Ultrasound of the Calcaneus to 2q33–37 and 4q12–21

✍ SG Wilson; PW Reed; T Andrew; MJ Barber; M Lindersson; M Langdown; D Thompson; E 📂 Article 📅 2003 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 251 KB

Oto-palato-digital syndrome type I: furt

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28

✍ V. Biancalana; B. Marec; S. Odent; J. A. M. J. Hurk; A. Hanauer 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 274 KB

The oto-palato-digital syndrome (OPD) is a rare X-linked disease with diagnostic skeletal features, conduction deafness, cleft palate and mild mental retardation. Differences in clinical presentation between families have led investigators to classify OPD into two subtypes: type I and type II. A lin

Human collagen gene COL5A1 maps to the q

Human collagen gene COL5A1 maps to the q34.2→q34.3 region of chromosome 9, near the locus for nail-patella syndrome

✍ Greenspan, Daniel S.; Byers, Mary G.; Eddy, Roger L.; Cheng, Wen; Jani-Sait, She 📂 Article 📅 1992 🏛 Elsevier Science 🌐 English ⚖ 240 KB

Regional localization of the gene coding

Regional localization of the gene coding for the GM2 activator protein (GME2A) to chromosome 5q32-33 and confirmation of the assignment of GM3AP to chromosome 3

✍ D.M. SWALLOW; I ISLAM; M. R. FOX; S. POVERY; H. KLIMA; U. SCHEPERS; K. SANDHOFF 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 768 KB