Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number-Reference-Cited by-同舟云学术

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

Published:1998-12 Issue:6 Volume:63 Page:1712-1723
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Parsons D.W.,McAndrew P.E.,Iannaccone S.T.,Mendell J.R.,Burghes A.H.M.,Prior T.W.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference55 articles.

1. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I;Brahe;Hum Mol Genet,1996

2. Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis;Brahe;Hum Genet,1994

3. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3;Brzustowicz;Nature,1990

4. When is a deletion not a deletion?. When it is converted;Burghes;Am J Hum Genet,1997

5. Linkage mapping of the spinal muscular atrophy gene;Burghes;Hum Genet,1994

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