公开(公告)号：US6149909A

公开(公告)日：2000-11-21

申请号：US191171

申请日：1998-11-13

Applicant: Hamish Steele Scott ,  Donald Stewart Anson ,  Annette Marie Orsborn ,  Paul Victor Nelson ,  Peter Roy Clements ,  Charles Phillip Morris ,  John Joseph Hopwood

Inventor： Hamish Steele Scott ,  Donald Stewart Anson ,  Annette Marie Orsborn ,  Paul Victor Nelson ,  Peter Roy Clements ,  Charles Phillip Morris ,  John Joseph Hopwood

IPC: A61K38/00 ,  C12N9/24 ,  A61K38/47

CPC classification number: C12Y302/01076 ,  C12N9/2402 ,  A61K38/00 ,  C07K2319/00

Abstract: The present invention relates generally to .alpha.-L-iduronidase and to genetic sequences encoding same. More particularly, the present invention provides an isolated nucleic acid molecule comprising a sequence of nucleotides which encodes or are complementary to a sequence which encodes a mammalian .alpha.-L-iduronidase or fragment or derivative thereof and to the recombinant enzyme encoded thereby. These molecules are useful in the investigation, diagnosis and treatment of subjects suspected of or suffering from .alpha.-L-iduronidase deficiency.

Abstract translation: 本发明一般涉及α-L-艾杜糖醛酸酶和编码其的遗传序列。 更具体地，本发明提供了分离的核酸分子，其包含编码或与编码哺乳动物α-L-胆碱蛋白酶或其片段或衍生物的序列和与其编码的重组酶的序列互补的核苷酸序列。 这些分子可用于疑似或遭受α-L-神经氨酸酶缺陷的受试者的调查，诊断和治疗。

公开(公告)号：US06255096B1

公开(公告)日：2001-07-03

申请号：US09077354

申请日：1999-04-22

Applicant: John Joseph Hopwood ,  Hamish Steele Scott ,  Birgit Weber ,  Lianne Blanch ,  Donald Stewart Anson

Inventor： John Joseph Hopwood ,  Hamish Steele Scott ,  Birgit Weber ,  Lianne Blanch ,  Donald Stewart Anson

IPC: C12N900

CPC classification number: C12Y302/0105 ,  A61K38/00 ,  C12N9/2402

Abstract: The present invention relates generally to mammalian &agr;-N-acetyglucosaminidase and to genetic sequences encoding same and to their use in the investigation, diagnosis and treatment of subjects suspected of or suffering from &agr;-N-acetylglucosaminidase deficiency.

Abstract translation: 本发明一般涉及哺乳动物α-N-乙酰氨基葡糖苷酶以及编码它们的遗传序列及其在疑似或遭受α-N-乙酰氨基葡糖苷酶缺陷的受试者的研究，诊断和治疗中的用途。