✦ LIBER ✦

DNA-based prenatal diagnosis in a Chinese family with xeroderma pigmentosum group A

✍ Scribed by Y. Yang; B. Ding; K. Wang; D. Bu; P. Tu; X. Zhu

Book ID: 108667518
Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 189 KB
Volume: 150
Category: Article
ISSN: 0007-0963
DOI: 10.1111/j.1365-2133.2004.05938.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Convulsive episodes in patients with gro

Convulsive episodes in patients with group A xeroderma pigmentosum

✍ J. Kohyama; W. Furushima; Y. Sugawara; M. Shimohira; T. Hasegawa; M. Hayashi; S. 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 256 KB

Expression cloning of a human DNA repair

Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C

✍ Legerski, Randy ;Peterson, Carolyn 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 152 KB

Expression cloning of a human DNA repair

Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C

✍ Legerski, Randy; Peterson, Carolyn 📂 Article 📅 1992 🏛 Nature Publishing Group 🌐 English ⚖ 564 KB

Identification of a primarily neurologic

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family

✍ O. Messaoud; M. Ben Rekaya; R. Kefi; S. Chebel; A. Boughammoura-Bouatay; H. Bel 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 173 KB

PRENATAL DIAGNOSIS IN A CHINESE FAMILY W

PRENATAL DIAGNOSIS IN A CHINESE FAMILY WITH TYPE Ia GLYCOGEN STORAGE DISEASE BY PCR-BASED GENETIC ANALYSIS

✍ WEN-JANE LEE; CHING-HWA YANG; ESTHER SHIH-CHU HO; AI SHIH; LIH-YUAN LIN; WEN-HAN 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 623 KB

Type Ia glycogen storage disease (GSD), an autosomal recessive metabolic disorder, is caused by a deficiency in glucose-6-phosphatase (G6Pase). We had previously identified the nature of the causative mutations in a Chinese family whose first two children were affected with type Ia GSD. Two differen

Mutations in the xeroderma pigmentosum g

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

✍ Broughton, Bernard C.; Steingrimsdottir, Herdis; Weber, Christine A.; Lehmann, A 📂 Article 📅 1994 🏛 Nature Publishing Group 🌐 English ⚖ 688 KB