✦ LIBER ✦

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity ofUGT1A1gene

✍ Scribed by Li, Yan; Qu, Yu-jin; Zhong, Xue-mei; Cao, Yan-yan; Jin, Li-min; Bai, Jin-li; Ma, Xin; Jin, Yu-wei; Wang, Hong; Zhang, Yan-ling; Song, Fang

Book ID: 125406459
Publisher: SP Zhejiang University Press
Year: 2014
Tongue: English
Weight: 1006 KB
Volume: 15
Category: Article
ISSN: 1673-1581
DOI: 10.1631/jzus.B1300233

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sequence of exons and the flanking regio

Sequence of exons and the flanking regions of human bilirubin-UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I

✍ Piter J. Bosma; Namita Roy Chowdhury; Bart G. Goldhoorn; Martin H. Hofker; Ronal 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 814 KB

Crigler-Najjar syndrome, type I is a heterogeneous

GLUCURONIDATION OF DIFLUNISAL, (−)-MORPH

GLUCURONIDATION OF DIFLUNISAL, (−)-MORPHINE, 4-NITROPHENOL, AND PROPOFOL IN LIVER MICROSOMES OF TWO PATIENTS WITH CRIGLER–NAJJAR SYNDROME TYPE I

✍ Françoise M. Brunelle; Araz A. Raoof; Jean De Ville De Goyet; Roger K. Verbeeck 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 403 KB

In vitro glucuronidation was studied in liver microsomes from two patients with Crigler-Najjar type I (CN-I) disease and compared with the activity measured in microsomes prepared from six control human livers. The UDP-glucuronosyltransferase (UGT) activity was determined toward the following substr

Mutation screening of neurofibromatosis

Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients

✍ Hartmut Peters; Andrea Lüder; Anja Harder; Markus Schuelke; Sigrid Tinschert 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

Neurofibromatosis type 1 is a clinically variable disorder caused mostly by small mutations within the NF1 gene on chromosome 17q11.2. We used Single Strand Conformation Polymorphism (SSCP) and radioactive sequencing to screen NF1 exons 28 and 29 from 118 unrelated patients, diagnosed with NF1 accor

Expression and functional analysis of me

Expression and functional analysis of menin in a multiple endocrine neoplasia type 1 (MEN1) patient with somatic loss of heterozygosity in chromosome 11q13 and unidentified germline mutation of theMEN1gene

✍ Junko Naito; Hiroshi Kaji; Hideaki Sowa; Riko Kitazawa; Sohei Kitazawa; Toshihik 📂 Article 📅 2006 🏛 Springer 🌐 English ⚖ 729 KB

Novel Point Mutation of the α2-Globin Ge

Novel Point Mutation of the α2-Globin Gene ( HBA2 ) and a Rare 2.4 kb Deletion of the α1-Globin Gene ( HBA1 ), Identified in Two Chinese Patients with Hb H Disease

✍ So, Chi-Chiu; Chan, Amy Y. Y.; Ma, Edmond S. K. 📂 Article 📅 2014 🏛 Informa plc 🌐 English ⚖ 895 KB

Two novel mutant alleles of the gene enc

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15

✍ Marek Bodzioch; Katarzyna Lapicka; Charalampos Aslanidis; Marek Kacinski; Gerd S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 3 views

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam