[Case study of a spinal muscular atrophy type 1 patient retaining one allele of the SMN1 gene]

No To Hattatsu. 2016 Sep;48(5):343-6.

[Article in Japanese]

Authors

Hiroyuki Yamada, Yoshinobu Nishida, Takako Matsumoto, Toshiro Maihara, Hisahide Nishio

PMID: 30010277

No abstract available

Publication types

Case Reports

MeSH terms

Alleles
Base Sequence
Exons
Humans
Infant
Male
Spinal Muscular Atrophies of Childhood / genetics*
Survival of Motor Neuron 1 Protein / genetics*

Substances

SMN1 protein, human
Survival of Motor Neuron 1 Protein