Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations-Reference-Cited by-同舟云学术

Premutation for the Martin-Bell syndrome analyzed in a large pedigree segregating also for G6PD-deficiency. I: A working hypothesis on the nature of the FRAX-mutations

Published:1991-09-15 Issue:4 Volume:40 Page:387-394
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Filippi Giorgio,Arslanian Araxy,Dagna-Bricarelli Franca,Pierluigi Mauro,Grasso Marina,Rinaldi Antoniettina,Rocchi Mariano,Siniscalco Marcello

Publisher

Wiley

Subject

Genetics(clinical)

Reference48 articles.

1. THE FUSION OF TWO PEPTIDE CHAINS IN HEMOGLOBIN LEPORE AND ITS INTERPRETATION AS A GENETIC DELETION

2. RFLP FOR LINKAGE ANALYSIS OF FRAGILE X SYNDROME

3. Further evidence for genetic heterogeneity in the fragile X syndrome

4. Multipoint linkage of 9 anonymous probes to HPRT, factor 9, and fragile X

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier;Clinical Genetics;2013-04-10

2. Giorgio Filippi, April 4, 1935-January 19, 1996;American Journal of Medical Genetics;1997-01-10

3. Premutation for the Martin-Bell syndrome analyzed in a large Sardinian family: III. Molecular analysis with the StB12.3 probe;American Journal of Medical Genetics;1996-08-09

4. Further linkage evidence for localization of mutational sites for nonsyndromic types of X-linked mental retardation at the pericentromeric region;American Journal of Medical Genetics;1996-07-12

5. Premutation for the martin-bell syndrome analyzed in a large sardinian family: II. Neuropsychological and behavioral data;American Journal of Medical Genetics;1992-04-15