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Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families

โœ Scribed by Yukiji Yamada; Shunji Tomatsu; Kazuko Sukegawa; Yasuyuki Suzuki; Naomi Kondo; John J. Hopwood; Tadao Orii


Publisher
Springer
Year
1993
Tongue
English
Weight
735 KB
Volume
92
Category
Article
ISSN
0340-6717

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DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und