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PMID: 8401576 Published · ppublish English Case Reports Letter

A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS)

Nature genetics ·Vol. 4 ·No. 4 ·1993-08-00 ·Pages 331

Jouet M, Rosenthal A, MacFarlane J, Kenwrick S, Donnai D

Abstract

暂无摘要

MeSH Terms
Amino Acid Sequence Cysteine Female Humans Hydrocephalus/genetics Leukocyte L1 Antigen Complex Male Membrane Glycoproteins/genetics Pedigree Point Mutation Polymerase Chain Reaction X Chromosome
Chemicals
Leukocyte L1 Antigen Complex Membrane Glycoproteins Cysteine
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Jouet M
Rosenthal A
MacFarlane J
Kenwrick S
Donnai D
Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1061-4036
DOI
10.1038/ng0893-331
Published
1993-08-00
Pages
331
Language
English
Region
United States
NLM ID
9216904
Subset
IM
External Links
PubMed source DOI: 10.1038/ng0893-331 View journal details
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