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Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes

It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: McKusick, Victor A., Kelly, Thaddeus E., Dorst, John P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1973
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012968/
https://ncbi.nlm.nih.gov/pubmed/4697848
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