Topic: Molecular Sequence Data
Journal: American Journal of Medical Genetics. Part A
Documents
A list of abstracts that contain a topic of "Molecular Sequence Data" and a journal name of "American Journal of Medical Genetics. Part A".
Contiguous Gene Deletion Involving L1cam and Avpr2 Causes X-linked Hydrocephalus with Nephrogenic Diabetes Insipidus.
PMID: 17318848
Origin of the Prevalent Sftpb Indel G.1549c > Gaa (121ins2) Mutation Causing Surfactant Protein B (Sp-b) Deficiency.
PMID: 16333843
A Novel Mutation in the Dna-binding Domain of Maf at 16q23.1 Associated with Autosomal Dominant "Cerulean Cataract" in an Indian Family.
PMID: 16470690
Clinical Hypochondroplasia in a Family Caused by a Heterozygous Double Mutation in Fgfr3 Encoding Gly380lys.
PMID: 17256796
Neurodevelopmental Deficits in Pierson (Microcoria-congenital Nephrosis) Syndrome.
PMID: 17256789
