Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

Bru Cormand; Theresa Larriba Harboe; Laura Gort; Cristina Campoy; Mariana Bianco; Néstor Chamoles; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg

doi:10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation

Bru Cormand, Theresa Larriba Harboe, Laura Gort, Cristina Campoy, Mariana Bianco, Néstor Chamoles, Amparo Chabás, Lluïsa Vilageliu, Daniel Grinberg

Medical Genetics Program

29 Citationer (Scopus)

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	80
Sider (fra-til)	343-351
Antal sider	9
ISSN	1552-4825
DOI	https://doi.org/10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W
Status	Udgivet - 1998

Adgang til dokumentet

10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

Citationsformater

@article{098722b01d4e11df8ed1000ea68e967b,

title = "Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation",

author = "Bru Cormand and Harboe, {Theresa Larriba} and Laura Gort and Cristina Campoy and Mariana Bianco and N{\'e}stor Chamoles and Amparo Chab{\'a}s and Llu{\"i}sa Vilageliu and Daniel Grinberg",

note = "Mutation analysis of Gaucher disease patients from Argentina",

year = "1998",

doi = "10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W",

language = "English",

volume = "80",

pages = "343--351",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

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}

TY - JOUR

T1 - Mutation analysis of Gaucher disease patients from Argentina

T2 - high prevalence of the RecNciI mutation

AU - Cormand, Bru

AU - Harboe, Theresa Larriba

AU - Gort, Laura

AU - Campoy, Cristina

AU - Bianco, Mariana

AU - Chamoles, Néstor

AU - Chabás, Amparo

AU - Vilageliu, Lluïsa

AU - Grinberg, Daniel

N1 - Mutation analysis of Gaucher disease patients from Argentina

PY - 1998

Y1 - 1998

U2 - 10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

DO - 10.1002/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W

M3 - Journal article

SN - 1552-4825

VL - 80

SP - 343

EP - 351

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

ER -